Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
myostatin
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

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 Similarity of
phenotypes
Matching phenotypes Source
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Muscle Hypertrophy
Skeletal muscle hypertrophy OMIM:614160
Hypertrophia Musculorum Vera
Calf muscle hypertrophy OMIM:145800
Masticatory Muscles, Hypertrophy Of
Skeletal muscle hypertrophy OMIM:154850
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Marked muscular hypertrophy, Insulin resist... ORPHA:435660
Myopathy, Distal, 5
Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Muscle fiber splitting OMIM:617030
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short femur, Short humerus OMIM:600121
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, ... OMIM:618655
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Fatty re... OMIM:618848
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Distal lower limb ... OMIM:605820
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipo... ORPHA:79085
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Marked muscular hypertrophy, Hepatic steatosis, Lipodystrophy, Insulin-re... ORPHA:435651
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Spinal muscular atroph... OMIM:158600
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... ORPHA:611
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Abnormality of the fourth metatarsal bone, Flattened me... ORPHA:564003
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Facial palsy... ORPHA:3416
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... OMIM:601376
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Prox... OMIM:601954
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Tibial bowing, Increased bone mi... OMIM:166740
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Muscular dystrophy, Lipodystrophy, Abnormal circulating li... OMIM:615980
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Craniofacial hyperostosis, Bowing of the long bones, Abnormal co... ORPHA:1802
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Osteopetrosis, Autosomal Recessive 6
Cortical sclerosis of the iliac wing, Erlenmeyer flask deformity of the femurs, Osteopetrosis, De... OMIM:611497
Craniodiaphyseal Dysplasia
Cranial hyperostosis, Diaphyseal dysplasia, Facial hyperostosis, Diaphyseal sclerosis OMIM:218300
Sclerosteosis
2-3 finger syndactyly, Finger syndactyly, Craniofacial hyperostosis, Abnormal cortical bone morph... ORPHA:3152
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Myopathy, Distal, Tateyama Type
Elevated circulating creatine kinase concentration, Calf muscle hypertrophy OMIM:614321
Carnitine Deficiency, Myopathic
Myopathy, Reduced muscle carnitine level OMIM:212160
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1 ORPHA:140941
Miyoshi Myopathy
Tibialis atrophy, Proximal amyotrophy, Quadriceps muscle weakness, Pelvic girdle muscle weakness,... ORPHA:45448
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... ORPHA:2593
Ethanolaminosis
Cardiomegaly OMIM:227150
Metaphyseal Anadysplasia 2
Metaphyseal widening, Short femoral neck, Bowing of the legs, Metaphyseal irregularity OMIM:613073
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Limb-girdle muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Myopathy, Abnorma... OMIM:615424
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Increased circulating an... ORPHA:411593
Myopathy, Distal, Infantile-Onset
Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Foot dorsiflexor wea... OMIM:160300
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating insu... ORPHA:293964
Mueller-Weiss Syndrome
Fragmented, irregular epiphyses, Limitation of movement at ankles, Pes planus, Positional foot de... ORPHA:566943
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Postaxial hand polydactyly, Short femur, Short phalanx of finger, Flexi... OMIM:200700
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... ORPHA:602
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance OMIM:125853
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis OMIM:166700
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8
Elevated circulating creatine kinase concentration, Calf muscle hypertrophy OMIM:618135
Multiple Symmetric Lipomatosis
Hepatomegaly, Abnormal adipose tissue morphology, Multiple lipomas, Insulin resistance ORPHA:2398
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Fatty repl... OMIM:618940
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Hypertriglyceridemia, Type II diabet... OMIM:615703
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Lipodystrophy, Hepatom... OMIM:612526
Nemaline Myopathy 6
Myopathy, Nemaline bodies, Limb muscle weakness OMIM:609273
Rippling Muscle Disease 2
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Abnormal skeleta... OMIM:606072
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Macroglossia, Hypothyroidism, Umbilical ... ORPHA:99886
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Muscular Dystrophy, Congenital, 1B
Pectoralis amyotrophy, Congenital muscular dystrophy, Achilles tendon contracture, Shoulder girdl... OMIM:604801
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, I... OMIM:606721
Spinal Muscular Atrophy, Facioscapulohumeral Type
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:182970
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Distal Myopathy, Welander Type
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Rimmed vacuoles, Weakness of long fi... ORPHA:603
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Myofibrillar myopath... ORPHA:34516
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Recurrent fractures, Osteopenia, Mandibular osteomyelitis, Thickened co... ORPHA:53697
Eiken Syndrome
Short toe, Abnormal bone ossification, Short phalanx of finger, Abnormal trabecular bone morpholo... ORPHA:79106
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitu... ORPHA:181393
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Flexion contracture, Increased variability in muscle fiber diameter OMIM:300717
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Flexion contracture, Limb-girdle mu... OMIM:608099
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Internally nucleated skeletal muscle fibers, Muscle fiber hypertrop... ORPHA:178464
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Proximal upper limb muscle hypertrophy, Insulin resistance, Incr... ORPHA:280365
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Increased variability i... OMIM:253601
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Fibular Hemimelia
Craniosynostosis, Hip subluxation, Joint laxity, Structural foot deformity, Bowing of the legs, J... ORPHA:93323
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Talocalcaneal synostosis, Pes planus, Sandal gap, Wide capital fe... OMIM:147891
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Peroneal muscle atrophy, Increased muscle lipid content, Centrally ... ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles OMIM:615426
Avascular Necrosis Of Femoral Head, Primary, 1
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis OMIM:608805
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Flexion contracture, Ankle flexion contracture, Increased endomysial connecti... OMIM:617072
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Pedal edema, Increased bone mineral density ORPHA:75325
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Proximal muscle weakness in lower limbs, Proximal musc... ORPHA:457050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter OMIM:618992
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Fibular bowing, Genu valgum, Generalized bone demineralization, Metaphyseal ir... OMIM:600785
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Facial p... OMIM:500002
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fatty replacement of skeletal m... OMIM:613204
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Muscular dystrophy OMIM:613158
Hip Dysplasia, Beukes Type
Hip dysplasia, Abnormal bone ossification, Abnormal ossification involving the femoral head and n... ORPHA:2114
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Hypoplasia of the capital femoral epiphysis, Metaphyseal irregularity, Delayed ossif... OMIM:607078
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Lethal Recessive Chondrodysplasia
Macroglossia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Short long b... ORPHA:1423
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Hyperinsulinemia, Hypertriglyceridemia, Increased adipose tissue, Type II diabetes me... ORPHA:71529
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipoatrophy, Hepatomegaly, Pancreatitis,... ORPHA:79084
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adipose tissue, Lipoatrophy, Hepatic fi... ORPHA:280356
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal amyotrophy, Hip contracture,... OMIM:619042
Caffey Disease
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs, Cortical irregula... OMIM:114000
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the knee, Osteolysis, Abnormality of epiphysis morphology, Ab... ORPHA:970
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Achilles t... OMIM:609200
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Congenital foot contractures, Arthrogryposis multiplex congenita, Scapular winging, Knee flexion ... OMIM:602484
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis, Metaphyseal dysplasia OMIM:615198
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Tibialis muscle weakness, ... ORPHA:178400
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Centrally nucleated skeletal ... OMIM:608423
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Insulin resistance, Beta-cell dysfunction OMIM:612227
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosis, Abnormality of pelvic girdle... OMIM:607634
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hypoglycemia, Hepatomegaly, ... OMIM:232700
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Macroglossia, Hyperinsulinemia, Insulin resistance, Hepatic stea... ORPHA:528
Central Core Disease Of Muscle
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Type 1 muscle ... OMIM:117000
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Limb undergrowth, Abnormal cortical bone morphology, Increas... ORPHA:2204
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Abnormal cortical... ORPHA:3344
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... OMIM:254130
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Abnormality of body weight, Decreased body weight, ... ORPHA:314811
Lipodystrophy, Familial Partial, Type 4
Skeletal muscle hypertrophy, Hepatic steatosis, Lipoatrophy, Hypertriglyceridemia, Diabetes mellitus OMIM:613877
Vacuolar Neuromyopathy
Scapular winging, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle... OMIM:601846
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
EMG: myopathic abnormalities, Facial hypotonia, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Central adrenal insufficiency, Decreased ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Central adrenal insufficiency, Decreased ... ORPHA:71526
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Otopalatodigital Syndrome Type 1
Short hallux, Abnormality of the tarsal bones, Synostosis of carpal bones, Hypoplastic frontal si... ORPHA:90650
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Decreased hip abduction, Flared iliac wing, Rhizomelia... OMIM:183849
Epiphyseal Dysplasia, Multiple, 7
Flat acetabular roof, Monkey wrench femoral neck, Genu varum, Short femoral neck, Advanced ossifi... OMIM:617719
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Macroglossia, Scapular winging, Limb-girdle muscular dystrophy, Hypoglycosylation of alpha-dystro... OMIM:616052
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Reduced intraabdominal adipos... ORPHA:363400
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Limb-girdle muscular dystrophy, Elevated circulating creatine kinase concentration, Calf muscle p... ORPHA:280333
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Metaphyseal chondrodysplasia, Abnormality of epiphysis morphology, Bowing of the l... ORPHA:2501
Myopathy, Scapulohumeroperoneal
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... OMIM:616852
Muscular Dystrophy, Congenital, Merosin-Positive
Congenital muscular dystrophy, Flexion contracture, Shoulder girdle muscle weakness, Facial palsy... OMIM:609456
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Muscular dystrophy OMIM:613157
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Scapu... OMIM:608358
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Melorheostosis
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... ORPHA:2485
Alpha-B Crystallin-Related Late-Onset Myopathy
EMG: myopathic abnormalities, Facial diplegia, Muscle fiber inclusion bodies, Autophagic vacuoles... ORPHA:399058
Acquired Partial Lipodystrophy
Hepatic steatosis, Myopathy, Lipoatrophy, Insulin resistance ORPHA:79087
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated ... OMIM:613530
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Exocrine pancreatic insufficiency... ORPHA:552
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions OMIM:614750
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased intramyocellular lipid droplets, Weakness of facial musculature OMIM:619062
Rippling Muscle Disease 1
Skeletal muscle hypertrophy OMIM:600332
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Facial paraly... OMIM:166600
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoulder girdle muscle we... OMIM:603511
Distal Myopathy, Tateyama Type
EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic hand muscle atr... ORPHA:488650
Miyoshi Muscular Dystrophy 3
Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Muscular dystrophy, ... OMIM:613319
Chondrodysplasia, Blomstrand Type
Squared iliac bones, Advanced tarsal ossification, Generalized osteosclerosis, Short ribs, Flared... OMIM:215045
Myopathy, Centronuclear, 1
EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Flexion contracture, Centrally nucleat... OMIM:160150
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Marked muscular hypertrophy, Insulin resistance, Hepatic steatosis,... ORPHA:79083
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Nemaline Myopathy 2
Slender build, EMG: myopathic abnormalities, Fatty replacement of skeletal muscle, Arthrogryposis... OMIM:256030
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Muscular dystrop... OMIM:611588
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Enlarged epiphyses, Camptodactyly, Joint contracture of the hand, Osteopenia OMIM:264010
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakness, Shoulder girdle ... OMIM:611307
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Short phalanx of finger, Generalized joint laxity, Hip osteoarthritis, Irregular epi... OMIM:132400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
EMG: myopathic abnormalities, Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Sk... OMIM:608840
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle... OMIM:619178
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Osteoporosis, Hip subluxation, Recurrent fractures, Skeletal muscle atrophy, Hip dislocation OMIM:256720
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Hepatic steatosis, Skeletal muscle hypertrophy, Lipoatrophy, Lipo... ORPHA:2348
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxity, Flat ace... ORPHA:750
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypertriglycerid... OMIM:306000
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Flexion contracture, Lipody... OMIM:615381
Spinal Muscular Atrophy, Jokela Type
Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Spinal muscular atro... OMIM:615048
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Mandibuloacral Dysplasia
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Glucose intolerance, Insuli... ORPHA:2457
Lower Motor Neuron Syndrome With Late-Adult Onset
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Dysphagia, Proximal muscle weakness ... ORPHA:276435
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Myositis... OMIM:615422
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flat distal femoral epiphysis, Genu valgum, Proximal femoral metaphyseal irregularity, Flared fem... OMIM:609324
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Myopathy, Scapular winging, Muscle fiber splitting, Proximal amyotrophy OMIM:618129
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb muscle weakness, Upper limb amyotrophy, Rimmed vacuoles, Upp... OMIM:616924
Zebra Body Myopathy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Torticollis, Autophagic vacuoles, N... ORPHA:97240
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Lipodystrophy, Insulin-resistant diabetes mellitus, Acu... OMIM:608600
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Pelvic girdle muscle weakness, Achilles tendon cont... OMIM:603689
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Autophagic vacuoles, Limb-girdle muscle weaknes... OMIM:608810
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Abnormal cortical bone morphology, Pathologic fracture, Toe clinodactyly,... ORPHA:166277
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Diaphyseal cortical sclerosis, Increased susceptibility to fractures, O... OMIM:166260
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber ... OMIM:612937
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Myopathy, Hypoglycemia ORPHA:366
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Facial palsy, Increased bone mineral density ORPHA:178377
Myopathy, Distal, 1
Type 1 muscle fiber predominance, Amyotrophy of ankle musculature, Facial palsy, Rimmed vacuoles,... OMIM:160500
Familial Expansile Osteolysis
Osteolysis, Pathologic fracture, Thin bony cortex, Bowing of the long bones OMIM:174810
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy OMIM:617760
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... OMIM:610947
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Abnormal circul... ORPHA:79086
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... OMIM:156500
Nemaline Myopathy 5
Proximal amyotrophy, Type 1 muscle fiber predominance, Z-band streaming, Nemaline bodies, Shoulde... OMIM:605355
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Hepatic steatosis, Skeletal muscle hypertrophy, Lipoatrophy, Lipod... ORPHA:90970
Cranio-Osteoarthropathy
Abnormality of the knee, Abnormality of tibia morphology, Abnormal cortical bone morphology, Arth... ORPHA:1525
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Craniofacial osteosclerosis, Facial diplegia, Diap... OMIM:122860
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Finnish Upper Limb-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscl... ORPHA:399086
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Micrognathia, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Metaphyse... ORPHA:440354
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Flexion contracture, Lower limb mus... ORPHA:171442
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Type 2 muscle f... OMIM:160565
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Lipodystrophy, Hyperuricemia, ... OMIM:604367
Charcot-Marie-Tooth Disease Type 1B
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Skeletal muscle ... ORPHA:101082
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Rimmed vacuoles, Flexion contracture OMIM:300696
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Intermediate Osteopetrosis
Cortical sclerosis, Erlenmeyer flask deformity of the femurs, Recurrent fractures, Generalized os... ORPHA:210110
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Epiphyseal Dysplasia, Multiple, 4
Hip dysplasia, Epiphyseal dysplasia, Limited elbow flexion, Double-layered patella, Short metacar... OMIM:226900
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Generalized joint laxity, Irregular patellae, Patellar hypoplasia, Genu varum, Short femoral neck... OMIM:609325
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Ghosal Hematodiaphyseal Dysplasia
Diaphyseal dysplasia, Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density OMIM:231095
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Flat acetabular roof, Sc... OMIM:271530
Myopathy, Distal, 3
EMG: myopathic abnormalities, Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles, Joint contr... OMIM:610099
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Ankle f... OMIM:613818
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mu... OMIM:618138
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Congenital Muscular Dystrophy With Intellectual Disability
Skeletal muscle hypertrophy, Hypoglycosylation of alpha-dystroglycan, Elevated circulating creati... ORPHA:370968
Childhood-Onset Nemaline Myopathy
Slender build, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular winging... ORPHA:171439
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Muscular ... OMIM:613327
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Scapular winging, Proximal amyotrophy, Muscular dystrophy, Elevated circulating creatine kinase c... OMIM:601287
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Pectoralis amyotrophy, Scapular winging, Congenital finger flexion contractures, Muscular dystrop... ORPHA:267
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, Abnormal foot morphology, Abnormal diaphysis morphology, Thin bon... ORPHA:85184
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif... ORPHA:276575
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Weight loss, Increased c... ORPHA:2298
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Flattened femoral head, Increased bone mineral de... ORPHA:93284
Ivic Syndrome
Small thenar eminence, Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb ... OMIM:147750
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Myopathy, Congenital Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, F... OMIM:618823
Severe X-Linked Mitochondrial Encephalomyopathy
Increased connective tissue, Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Absent frontal sinuses, Brachydactyly, In... OMIM:265800
Metatropic Dysplasia
Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal enchondral ossification, Halber... ORPHA:2635
Distal Nebulin Myopathy
EMG: myopathic abnormalities, Weakness of the intrinsic hand muscles, Nemaline bodies, Sternoclei... ORPHA:399103
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Glycogen Storage Disease Ixb
Increased muscle glycogen content OMIM:261750
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Spondyloepiphyseal Dysplasia Congenita
Osteoporosis, Genu valgum, Short femur, Upper limb undergrowth, Aplasia/hypoplasia involving bone... ORPHA:94068
Diastrophic Dwarfism
Hip dysplasia, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormality of epiphysis ... ORPHA:628
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Metaphyseal striations, Diaphy... OMIM:112250
Moderate Multiminicore Disease With Hand Involvement
Type 1 muscle fiber predominance, Facial palsy, Intrinsic hand muscle atrophy ORPHA:178145
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Elevated circulating creatine kinase concentration, Pelvic girdle muscle weak... ORPHA:34515
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting OMIM:609452
Creatine Phosphokinase, Elevated Serum
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Muscular dystrophy, Inflammatory ... OMIM:123320
Distal Myotilinopathy
EMG: myopathic abnormalities, Multiple joint contractures, Abnormal muscle fiber myotilin, Distal... ORPHA:98911
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Flexion contracture, Facial palsy, Increased variability in muscle... OMIM:616470
Nemaline Myopathy 4
Scapular winging, Flexion contracture, Type 1 muscle fiber predominance, Nemaline bodies, Skeleta... OMIM:609285
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Multiminicore Myopathy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Congenital muscular dystrop... ORPHA:598
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures OMIM:615066
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy OMIM:611556
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Pelviscapular Dysplasia
Humeroradial synostosis, Short femur, Congenital hip dislocation, Hypoplastic scapulae, Hypoplast... ORPHA:93333
Buschke-Ollendorff Syndrome
Craniosynostosis, Palmoplantar keratoderma, Abnormality of epiphysis morphology, Flexion contract... ORPHA:1306
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type 1 muscle f... ORPHA:86812
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Abnormal eating behavior, Hypogonadism, Micropenis, Obesity OMIM:614962
Myotonia, Potassium-Aggravated
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy OMIM:608390
Albers-Schönberg Osteopetrosis
Genu valgum, Abnormality of epiphysis morphology, Recurrent fractures, Generalized osteosclerosis... ORPHA:53
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Muscle fiber hyp... OMIM:500009
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Hepatic steatosis, Skeletal... OMIM:151660
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Acromegaloid Facial Appearance Syndrome
Large for gestational age OMIM:102150
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, Facial ... OMIM:300580
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Dislocated radial head, Joint hypermobility, Increased bone mineral density, Skelet... OMIM:614856
Hemihyperplasia, Isolated
Skeletal muscle hypertrophy OMIM:235000
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Isolated Growth Hormone Deficiency, Type Ia
Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Decreased response to... OMIM:262400
Epiphyseal Chondrodysplasia, Miura Type
Finger clinodactyly, Broad hallux, Long hallux, Osteopenia, Arachnodactyly, Epiphyseal dysplasia OMIM:615923
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flexion contracture, Thenar muscle atrophy, Flattened epiphysis, Abnormality of the metaphysis, O... ORPHA:157965
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Rimmed vacuoles, Pelvic girdle muscle weakness ORPHA:263494
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased endomysial connective tis... ORPHA:353
Femoral-Facial Syndrome
Hip dysplasia, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, Aplasia/Hypoplasia ... ORPHA:1988
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Abnormality of the metaphysis, Facial palsy, Osteopetrosis ORPHA:1522
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Atelosteogenesis Type Ii
Short phalanx of finger, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatarsus adductus, Short ... ORPHA:56304
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hepatic... ORPHA:436182
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... OMIM:600081
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Macroglossia, Skeletal muscle hypertrophy, Hypothyroidism, Umbilical hernia, Jaundice, Myopathy ORPHA:2349
Weismann-Netter Syndrome
Squared iliac bones, Fibular bowing, Calvarial hyperostosis, Anterior tibial bowing, Lateral femo... OMIM:112350
Atelosteogenesis, Type I
Radial bowing, Club-shaped proximal femur, Short femur, Short metatarsal, Micrognathia, Rhizomeli... OMIM:108720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Flexion contracture, Skeletal mu... OMIM:613156
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Muscular dystrophy, Triangular tongue, Skeletal muscle atrophy, Elevated circulatin... OMIM:616827
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis OMIM:246650
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Micrognathia, Flexion contracture, Limb undergrowth, Decreased fibular diameter, Sho... OMIM:616897
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Scapular winging, Hypoglycosylation of alpha-dystroglycan, Proximal muscle weakness... ORPHA:352479
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok... ORPHA:276556
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Proximal amyotrophy, Type 1 muscle fiber predominance, Shoulder fle... ORPHA:98902
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Abnormality of the peritoneum, Neoplasm of the liver, Reduced C-peptide... ORPHA:2126
Myopathy, Myofibrillar, 7
Type 2 muscle fiber predominance, Enuresis nocturna, Dysphagia, Flexion contracture, Increased Z-... OMIM:617114
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Increased variability in muscle fiber diameter OMIM:300718
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia OMIM:606762
Bardet-Biedl Syndrome 22
Obesity OMIM:617119
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
EMG: myopathic abnormalities, Overweight, Centrally nucleated skeletal muscle fibers, Delayed pub... ORPHA:486815
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Cirrhosis, Hyperinsulinemia, Polyphagia, Elevated hepatic transaminase, R... OMIM:608594
Axial Osteomalacia
Myopathy, Osteomalacia, Increased bone mineral density OMIM:109130
Myasthenic Syndrome, Congenital, 14
Limb-girdle muscle weakness, Ragged-red muscle fibers, Scapular winging, Flexion contracture OMIM:616228
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter OMIM:619065
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Nemaline Myopathy 1
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Flexion contracture, Distal lower l... OMIM:609284
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Obesity OMIM:615418
Paget Disease Of Bone 3
Osteolysis, Fractures of the long bones, Patchy osteosclerosis OMIM:167250
Kyphomelic Dysplasia
Radial bowing, Short femur, Micrognathia, Dumbbell-shaped humerus, Short humerus, Tibial bowing, ... OMIM:211350
Caffey Disease
Cortical irregularity, Calvarial hyperostosis, Periosteal thickening of long tubular bones, Corti... ORPHA:1310
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Cholest... OMIM:617156
Langer Mesomelic Dysplasia
Abnormality of epiphysis morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bon... ORPHA:2632
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis atrophy, Type 1 muscle fiber atrophy, Internally nucleated skeletal muscle fibers, Incre... ORPHA:98905
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Femur fracture, Osteopetrosis, Facial paralysis, Increased bone mineral density... OMIM:259700
Dysosteosclerosis
Sclerosis of hand bone, Absent frontal sinuses, Progressive bowing of long bones, Short diaphyses... OMIM:224300
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... OMIM:300554
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Epiphyseal Dysplasia, Baumann Type
Genu valgum, Hypoplasia of the femoral head, Joint laxity, Metaphyseal irregularity, Pes planus, ... OMIM:610797
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Cirrhosis, Hyperinsulinemia, Polyphagia, Elevated hepatic transaminase, R... OMIM:269700
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip dysplasia, Abnormality of the knee, Hip subluxation, Protrusio acetabuli, Hip osteoarthritis,... ORPHA:99642
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Amelia, Short femur OMIM:601357
Atelosteogenesis Type I
Short femur, Abnormal ossification involving the femoral head and neck, Rhizomelia, Limb undergro... ORPHA:1190
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Pelvic girdle muscle weakness, Increased variability in muscle... ORPHA:119
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Increased hepatic glycogen content, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carc... ORPHA:369
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal cortical bone morphology, Slender long bone, Abnormal hip bone morp... ORPHA:1486
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Combined Oxidative Phosphorylation Deficiency 6
Increased connective tissue, Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Gonadotropin deficiency, Adrenal hypoplasia, Polyphagia, Cholestasis, Obesity, Adrenal insufficie... OMIM:609734
Myopathy, Proximal, With Ophthalmoplegia
Myopathy, Muscle fiber inclusion bodies, Scapular winging, Congenital contracture OMIM:605637
Macrosomia Adiposa Congenita
Large for gestational age, Adrenocortical adenoma, Polyphagia, Obesity OMIM:248100
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Limb-girdle muscular dystrophy, Decreased body weight, Hypocholesterolemia,... ORPHA:96180
Grant Syndrome
Abnormality of the glenoid fossa, Joint hyperflexibility, Bowing of the long bones, Abnormal cort... ORPHA:2097
Czech Dysplasia
Short toe, Short metatarsal, Flexion contracture, Narrow iliac wing, Narrow femoral neck, Coxa va... OMIM:609162
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Abnormal bone ossification, Hemiatrophy of upper limb, Inc... ORPHA:163649
Myopathy, Myosin Storage, Autosomal Recessive
Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Centrally nucleated skeletal musc... OMIM:255160
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Hypothyroidism, Adrenal insufficien... OMIM:262700
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Increased connective tissue, Muscular dystrophy,... OMIM:255320
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Hypoglycemia, Prolonged neonatal jaundice, Congenit... ORPHA:446
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:144600
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Neonatal hyperbilirubinemia, Truncal obesity, Small for gestati... ORPHA:73272
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Short femur, Split hand, Hypoplastic ilia, Short greater sc... ORPHA:1860
Salih Myopathy
Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial palsy, Calf muscle hypert... OMIM:611705
Congenital Muscular Dystrophy, Ullrich Type
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomysial connective t... ORPHA:75840
Myopathy, Congenital, With Fiber-Type Disproportion
Dysphagia, Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type... OMIM:255310
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Metaphyseal irregularity, Joint contracture of the 5th finger, Narrow iliac wing, Ps... OMIM:601668
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibia... OMIM:602111
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hepatic fibrosis, Distal amyotrophy, E... OMIM:232400
Dysosteosclerosis
Craniofacial hyperostosis, Recurrent fractures, Increased bone mineral density, Coarse metaphysea... ORPHA:1782
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hy... ORPHA:35878
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Autosomal Recessive Hypophosphatemic Rickets
Lower limb asymmetry, Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic ric... ORPHA:289176
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle atrophy, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amy... OMIM:167320
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Elevated hepatic transaminase, Reduced muscle carnitine level, Hepati... OMIM:212140
Isolated Osteopoikilosis
Generalized osteosclerosis ORPHA:166119
Gorham-Stout Disease
Osteolysis, Abnormal bone ossification, Patchy reduction of bone mineral density, Abnormality of ... ORPHA:73
Craniometaphyseal Dysplasia, Autosomal Dominant
Erlenmeyer flask deformity of the femurs, Club-shaped distal femur, Facial palsy, Abnormality of ... OMIM:123000
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Elevated... OMIM:617253
Multiple Epiphyseal Dysplasia Type 4
Short metatarsal, Acetabular dysplasia, Joint stiffness, Double-layered patella, Short thumb, Sho... ORPHA:93307
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Myotonia With Skeletal Abnormalities And Mental Retardation
Skeletal muscle hypertrophy, Firm muscles OMIM:255710
X-Linked Hypophosphatemia
Genu valgum, Craniosynostosis, Sacroiliac joint synovitis, Flared iliac wing, Rickets, Flattening... ORPHA:89936
Summitt Syndrome
Obesity OMIM:272350
Bruck Syndrome 2
Femoral bowing, Flexion contracture, Increased susceptibility to fractures, Knee flexion contract... OMIM:609220
Osteogenesis Imperfecta, Type Xviii
Joint hypermobility, Joint laxity, Bowing of the long bones, Recurrent fractures, Generalized ost... OMIM:617952
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion contracture OMIM:607855
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Hyperinsulinemia, Obesity ORPHA:329249
Myotonia Congenita, Autosomal Recessive
Skeletal muscle hypertrophy, Muscle hypertrophy of the lower extremities OMIM:255700
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Proximal amyotrophy, Limb-girdle muscular dystrophy, Elevated circulating creat... ORPHA:206559
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Increased muscle lipid content, Hepatic steatosis, Hepatomegaly, H... OMIM:610717
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Hand muscle weakness, Scapular wing... ORPHA:437572
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Increased T3/T4 ratio, Omphalocele, Impaired sensitivity to thyroid hormone, Congen... OMIM:614450
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Slender build, Congenital muscular dystrophy, Flexion contracture, Ty... OMIM:254090
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia OMIM:615026
Facioscapulohumeral Muscular Dystrophy 1
Shoulder girdle muscle atrophy, Scapular winging, Shoulder girdle muscle weakness, Facial palsy, ... OMIM:158900
Aplasia Cutis Congenita
Finger syndactyly, Facial palsy, Toe syndactyly, Abnormality of bone mineral density ORPHA:1114
Familial Multiple Lipomatosis
Lipodystrophy, Hyperlipidemia, Increased adipose tissue, Insulin resistance ORPHA:199276
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Flexion contracture, General... OMIM:602771
Shox-Related Short Stature
Skeletal muscle hypertrophy, Obesity ORPHA:314795
Hyperparathyroidism, Transient Neonatal
Osteopenia, Femoral bowing, Short ribs OMIM:618188
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Decreased plasma ... OMIM:619048
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic rickets, Tibial bowing, ... OMIM:307800
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Dysphagia, Flexion contracture, Skel... OMIM:616867
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Myopathy, Ragged... ORPHA:254864
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Elevated circulating creatine k... ORPHA:565899
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Radioulnar synostosis, Lateral humeral condyle aplasia, Synostosis of ca... ORPHA:2741
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:67046
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Narcolepsy Type 1
Obesity ORPHA:2073
Duchenne And Becker Muscular Dystrophy
Slender long bone, Reduced bone mineral density, Joint stiffness, Skeletal muscle atrophy, Myopathy ORPHA:262
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... OMIM:241530
Paramyotonia Congenita Of Von Eulenburg
Skeletal muscle hypertrophy OMIM:168300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscular dystrophy, Flexion contracture, Right ventricular hypertrophy, Calf muscle pseudohypertr... OMIM:253700
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Macroglossia, Insulin resistance, Hypothyroidism, Increased circulating and... ORPHA:769
Schaaf-Yang Syndrome
Arthrogryposis multiplex congenita, Polyphagia, Camptodactyly, Flexion contracture, Failure to th... OMIM:615547
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98855
Coxoauricular Syndrome
Reduced bone mineral density, Abnormality of femur morphology, Hip dislocation, Abnormality of pe... ORPHA:1508
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Hepatic failure, Fa... OMIM:617872
Myopathic Ehlers-Danlos Syndrome
Decreased muscle mass, Congenital finger flexion contractures, Congenital muscular torticollis, F... ORPHA:536516
Central Core Disease
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Type 1 muscle fiber predomi... ORPHA:597
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbi... OMIM:607765
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Mitochondrial Complex I Deficiency, Nuclear Type 25
Myopathy, Nemaline bodies OMIM:618246
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Osteopenia, Recurrent fractures, Femoral bowing OMIM:126550
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism, Hypoglycemia OMIM:616113
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Plectin-Related Limb-Girdle Muscular Dystrophy R17
EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration, Pelvic girdle m... ORPHA:254361
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Delayed puberty, Failure to thrive, Hypocholesterolemia OMIM:616834
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Muscular dystrophy, Hypoglycemia, Hypertriglyceridemia, Adrenal insuff... OMIM:307030
Osteopetrosis, Autosomal Recessive 2
Genu valgum, Recurrent fractures, Osteopetrosis, Facial paralysis, Cranial hyperostosis, Mandibul... OMIM:259710
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal hip joint morphology, Flattened femoral head, Joint stiffness, Double-layered patella, A... ORPHA:166011
Growth Factors, Combined Defect Of
Lipodystrophy, Reduced subcutaneous adipose tissue, Flexion contracture, Insulin-resistant diabet... OMIM:233805
X-Linked Charcot-Marie-Tooth Disease Type 5
Skeletal muscle hypertrophy ORPHA:99014
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Congenital Myopathy With Myasthenic-Like Onset
EMG: myopathic abnormalities, Scapular winging, Type 1 muscle fiber predominance, Multiple joint ... ORPHA:424107
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Type 1 muscle fiber atrophy, Achilles tendon contracture, Decreased cervical spine flexion due to... OMIM:310300
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sandal gap, Short ribs, Talipes... OMIM:607143
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short finger, Metaphyseal cuppin... OMIM:608940
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Short Syndrome
Abnormal dental enamel morphology, Insulin resistance, Lipodystrophy, Weight loss, Inguinal herni... ORPHA:3163
Laing Early-Onset Distal Myopathy
EMG: myopathic abnormalities, Foot dorsiflexor weakness, Weakness of orbicularis oculi muscle, Ab... ORPHA:59135
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Subperiosteal bone resorption, Meta... OMIM:264700
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Elevated hepatic transamin... ORPHA:263455
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Thalidomide Embryopathy
Radial club hand, Preaxial hand polydactyly, Upper limb phocomelia, Split hand, Aplasia/hypoplasi... ORPHA:3312
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Hypoalbuminemia, Hepati... OMIM:602579
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin-resistant diabetes mellitus, Insulin r... ORPHA:90301
Dystonia 7, Torsion
Skeletal muscle hypertrophy, Torticollis OMIM:602124
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Ankylosis, Bowing of the long bones, Recurrent fractures, Increased bone mineral de... OMIM:239000
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Abnormality of epiphysis morphology, Recurrent fractures, Osteopetrosis, Reduced bon... ORPHA:2785
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Calcinosis, Delayed puberty, Generalized lipodystrophy, Hyperlipidemia ORPHA:90154
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cirrhosis, Hepatocellular necrosis, Abnormality of ... OMIM:231100
Leptin Receptor Deficiency
Polyphagia, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Abnormal eating behavior, O... OMIM:614963
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Elevated hepatic transaminase, Elevated circulating sebacic acid concentration, I... OMIM:615160
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Joint laxity, Metaphyseal irregularity, Central vertebral hypoplasia, Limb ... OMIM:602557
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Muscle fiber tubular inclusions, Ragged-red muscle fibers, Flexion contracture,... ORPHA:353327
Ataxia-Oculomotor Apraxia Type 4
Distal lower limb muscle weakness, Muscular dystrophy, Progressive distal muscular atrophy, Obesity ORPHA:459033
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Dysostosis, Stanescu Type
Macroglossia, Massively thickened long bone cortices, Abnormality of epiphysis morphology, Bowing... ORPHA:1798
Isaac Syndrome
Calf muscle hypertrophy, Weight loss ORPHA:84142
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Flexion contracture, Increased adipose tissue aroun... OMIM:248370
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal widening, Broad tibial metaphyses, Joint laxity, Aplasia/Hypoplasia of metatarsal bon... ORPHA:2502
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Spinal muscular atrophy, In... ORPHA:1145
Ck Syndrome
Joint hypermobility, Micrognathia, Abnormal cortical bone morphology, Abnormal digit morphology OMIM:300831
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Subperiosteal bone resorption, Meta... OMIM:277440
Myotonia Congenita, Autosomal Dominant
Skeletal muscle hypertrophy OMIM:160800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Macroglossia, Proximal amyotrophy, ... OMIM:606612
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
EMG: myopathic abnormalities, Generalized amyotrophy, Ragged-red muscle fibers, Facial diplegia, ... OMIM:609560
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Insulin resistance, Recurrent infantile hypoglycemia, Pos... ORPHA:508
Chylomicron Retention Disease
EMG: myopathic abnormalities, Elevated hepatic transaminase, Hepatic steatosis, Increased hepatoc... ORPHA:71
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98863
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Lower limb muscle weakness, Myopathy, Fatty replacement of skeletal... ORPHA:397744
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:261
Dent Disease 1
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... OMIM:300009
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy