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Gene: H6pd MGI:2140356

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Gene Summary

Name:
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
Synonyms:
Gpd1,  G6pd1,  Gpd-1

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating alkaline phosphatase level H6pdtm1a(EUCOMM)Wtsi HOM Early adult 2.80×10-07
increased startle reflex H6pdtm1a(EUCOMM)Wtsi HOM   Early adult 1.06×10-06
abnormal locomotor activation H6pdtm1a(EUCOMM)Wtsi HOM   Early adult 3.78×10-05
increased circulating aspartate transaminase level H6pdtm1a(EUCOMM)Wtsi HOM Early adult 6.48×10-06

Download data as:  TSV  XLS

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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 H6pd 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 H6pd by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931

The table below shows human diseases predicted to be associated to H6pd by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hydroxyacyl Glutathione Hydrolase Deficiency
Glyoxalase deficiency OMIM:614033
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal circulating enzyme concentration or activity OMIM:125460
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
Myopathy, Distal, Tateyama Type
Increased circulating lactate dehydrogenase concentration, Elevated circulating aspartate aminotr... OMIM:614321
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... OMIM:616199
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... OMIM:158600
Miyoshi Myopathy
Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Quadric... ORPHA:45448
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Spinal Muscular Atrophy, Scapuloperoneal
Scapular muscle atrophy, Spinal muscular atrophy, Peroneal muscle atrophy OMIM:271220
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy, Diabetes mellitus OMIM:158500
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... OMIM:619178
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,... OMIM:600794
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:619733
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617760
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Scapular winging, Facial palsy, Generalized limb muscle atrophy, Proximal upper limb amyotrophy, ... ORPHA:219
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,... OMIM:601472
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... OMIM:608423
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Nonaka Myopathy
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... OMIM:605820
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Distal lower limb amyotrophy, Quadriceps muscle atrophy, Quadriceps muscle weakness, Upper limb a... ORPHA:482601
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... OMIM:620235
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... OMIM:618129
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Weakness of facial musculature, Peroneal muscle atrophy, Shoulder girdle muscle atrophy, Talipes ... OMIM:181400
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... OMIM:601846
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... OMIM:616852
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Mitochondrial Myopathy With Diabetes
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Type II diabet... OMIM:500002
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... OMIM:613530
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating enzyme concentration or activity, Fatty replacement of skeletal muscle, Elev... ORPHA:171706
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Failure to thrive, Elbow ... OMIM:620310
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5
Distal lower limb amyotrophy, Spinal muscular atrophy, Foot dorsiflexor weakness OMIM:614881
Spastic Paraplegia 77, Autosomal Recessive
Upper limb muscle weakness, Lower limb amyotrophy, Lower limb muscle weakness OMIM:617046
Autosomal Recessive Spastic Paraplegia Type 63
Skeletal muscle atrophy, Decreased body weight ORPHA:401805
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... OMIM:612999
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Lethal Congenital Contracture Syndrome 4
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis OMIM:614915
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,... OMIM:618823
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Elevated... OMIM:615422
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated hepatic transaminase, Skeletal muscle atrophy, Increased circulating lactate dehydrogena... OMIM:620138
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Skeletal muscle atrophy, Distal lower limb muscle weakness OMIM:615025
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... OMIM:616228
Myopathy, Centronuclear, 4
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers OMIM:614807
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal o... OMIM:219080
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Centrally nucleated skeletal muscle fibers, Cryptorchidism, Flexion co... OMIM:618484
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... OMIM:620246
Neuronopathy, Distal Hereditary Motor, X-Linked
Distal amyotrophy, Spinal muscular atrophy OMIM:300489
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Fiber type grouping OMIM:614369
Spastic Paraplegia 38, Autosomal Dominant
Thenar muscle atrophy, Thenar muscle weakness, Distal amyotrophy, First dorsal interossei muscle ... OMIM:612335
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy OMIM:158650
Charcot-Marie-Tooth Disease, Axonal, Type 2U
Hand muscle atrophy, Distal amyotrophy, Foot dorsiflexor weakness, Hand muscle weakness OMIM:616280
Lethal Congenital Contracture Syndrome 3
Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex congenita OMIM:611369
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd
Distal amyotrophy, Foot dorsiflexor weakness OMIM:618036
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle fiber calsequestrin 1-containing inclusion bodies OMIM:616231
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Congenital Myopathy 3 With Rigid Spine
Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleated skeletal muscle fiber... OMIM:602771
Spinal Muscular Atrophy With Microcephaly And Mental Subnormality
Proximal spinal muscular atrophy OMIM:271110
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy... ORPHA:86812
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... ORPHA:603
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8
Calf muscle hypertrophy, Distal amyotrophy OMIM:618135
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1
Upper limb muscle weakness, Hammertoe, Distal amyotrophy OMIM:182960
Charcot-Marie-Tooth Disease, Axonal, Type 2W
Hammertoe, Distal amyotrophy OMIM:616625
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617072
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... ORPHA:178400
Spastic Paraplegia 42, Autosomal Dominant
Skeletal muscle atrophy OMIM:612539
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Cryptorchidi... ORPHA:486815
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance OMIM:616304
Spastic Paraplegia 73, Autosomal Dominant
Skeletal muscle atrophy, Claw toe deformity OMIM:616282
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:611705
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... OMIM:620068
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Nemaline Myopathy 6
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy OMIM:609273
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... OMIM:617066
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... OMIM:609200
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy OMIM:616209
Amyotrophic Lateral Sclerosis Type 4
Skeletal muscle atrophy ORPHA:357043
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... OMIM:619477
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Claw hand deformity, Lower limb muscle weakness, Upper limb muscle weakness, Hammertoe, Lower lim... OMIM:618511
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Upper limb muscle weakness, Reduced beta-hexosaminidase activity, Proximal ... ORPHA:309169
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... OMIM:255320
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Short metacarpal, Hypergonadotropic hypogonadism, Centrally nucleated sk... OMIM:248800
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Insulin-resistant diabetes mellitus, Central core... ORPHA:401768
Spinal Muscular Atrophy With Mental Retardation
Syndactyly, Spinal muscular atrophy OMIM:271109
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal lower limb amyotrophy, Weak grip, Distal amyotrophy, Distal upper limb amyotrophy, Wrist d... OMIM:619519
Spinal Muscular Atrophy, Jokela Type
Calf muscle hypertrophy, Skeletal muscle atrophy, Hammertoe, Spinal muscular atrophy OMIM:615048
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Skeletal muscle atrophy, Myopathy, Congenital contracture, Talipes equinovarus, Arthrogryposis mu... OMIM:208100
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Hand muscle atrophy, Hand muscle weakness, Distal amyotrophy, Weakness of facial musculature, Low... OMIM:607641
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Knee flexion contracture ORPHA:401785
Congenital Myopathy 4A, Autosomal Dominant
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Type 1 fibers r... OMIM:255310
Gemignani Syndrome
Skeletal muscle atrophy, Abnormal testis morphology, Delayed puberty ORPHA:2074
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Delayed p... ORPHA:314811
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop... OMIM:255160
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal amyotrophy, Spinal muscular atrophy, Proximal amyotrophy OMIM:182980
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... OMIM:608099
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Hypoglycemia, Glycogen accumulation in muscle fiber lysosomes, Quadricep... OMIM:300559
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Spastic Paraplegia 31, Autosomal Dominant
Skeletal muscle atrophy, Distal amyotrophy, Lower limb muscle weakness OMIM:610250
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating cortisol lev... OMIM:615830
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome OMIM:201910
Spastic Paraplegia 57, Autosomal Recessive
Hand muscle atrophy, Lower limb amyotrophy OMIM:615658
Oculopharyngeal Muscular Dystrophy
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology ORPHA:270
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... ORPHA:596
Distal Hereditary Motor Neuropathy Type 5
Thenar muscle atrophy, Thenar muscle weakness, Upper limb muscle weakness, Distal amyotrophy, Ham... ORPHA:139536
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Rimmed vacuoles, Failure to thrive, Skeletal muscle autophagosome accumulation, Centrally nucleat... OMIM:619518
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Hypercholesterolemia, Increased variability in muscle fiber diamet... ORPHA:488650
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... ORPHA:266
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia ORPHA:1216
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy ORPHA:2380
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... ORPHA:598
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Bilateral cryptorchidism, Cryptorchidism, Type 1 musc... OMIM:619542
Spastic Paraplegia 62, Autosomal Recessive
Skeletal muscle atrophy OMIM:615681
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Skeletal muscle atrophy, Flexion contracture OMIM:611105
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... OMIM:255200
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy ORPHA:85162
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... OMIM:613204
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w... OMIM:619216
Spastic Paraplegia 64, Autosomal Recessive
Skeletal muscle atrophy, Talipes equinovarus, Delayed puberty OMIM:615683
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I... ORPHA:276435
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Elevated hepatic transaminase, Myopathy, Limb-girdle muscular dystrophy, Increased variability in... OMIM:612937
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Talipes equino... OMIM:608340
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Distal lower limb amyotrophy, Skeletal muscle atrophy, Hammertoe, Lower limb muscle weakness, Foo... OMIM:613287
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... OMIM:600175
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Hammertoe, Distal amyotrophy, Foot dorsiflexor weakness, Proximal amyotrophy OMIM:616040
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Distal amyotrophy, Distal lower limb muscle weakness, Interosseus muscle atrophy, Spinal muscular... OMIM:607088
Bethlem Myopathy 1
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... OMIM:158810
Moderate Multiminicore Disease With Hand Involvement
Talipes equinovarus, Facial palsy, Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance ORPHA:178145
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... OMIM:619042
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystroglycan, Ankle flexion contracture... ORPHA:280333
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature OMIM:617069
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Lower limb muscle weakness, Spinal muscular atrophy, Weakness of the intrinsic hand muscles, Lowe... OMIM:615575
Spastic Paraplegia 63, Autosomal Recessive
Skeletal muscle atrophy OMIM:615686
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Large for ge... ORPHA:169189
Dysequilibrium Syndrome
Skeletal muscle atrophy ORPHA:1766
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypertriglyceridemia, Hypoglycemia ORPHA:366
Nemaline Myopathy 5C, Autosomal Dominant
Skeletal muscle atrophy, Scapular winging, Slender build, Quadriceps muscle weakness, Achilles te... OMIM:620389
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... OMIM:253601
Amyotrophic Lateral Sclerosis 20
Elevated circulating alkaline phosphatase concentration, Muscle fiber inclusion bodies, Muscular ... OMIM:615426
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Elevated ... OMIM:167320
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Spinal muscular atrophy, Distal amyotrophy, Shoulder girdle muscle weak... OMIM:253400
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Congenital Myopathy 23
Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, Type 1 muscle fi... OMIM:609285
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Joint contracture, Lower limb muscle weakness OMIM:611225
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Long... ORPHA:169186
Myopathy, Myofibrillar, 8
Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Joint ... OMIM:617258
Mitochondrial Myopathy, Infantile, Transient
Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... OMIM:500009
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Claw hand deformity, Spinal muscular atrophy, Distal amyotrophy, Hammertoe, Foot dorsiflexor weak... OMIM:605726
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... OMIM:300696
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... ORPHA:97240
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers... OMIM:160500
Parkinson Disease 17
Tremor, Resting tremor, Akinesia OMIM:614203
Spinocerebellar Ataxia Type 27
Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr... ORPHA:98764
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Segmental spinal muscular atrophy OMIM:183020
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, ... OMIM:232700
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, Increased circ... ORPHA:90790
Dpm3-Cdg
Elevated hepatic transaminase, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle ... ORPHA:263494
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... OMIM:608807
Myopathy, Distal, 3
Split hand, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur... OMIM:610099
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Joint contracture, Failure to thrive, Spinal muscular atrophy OMIM:616081
Myopathy, Centronuclear, 5
Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers OMIM:615959
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hammertoe, Distal amyotrophy, Ulnar claw, Foot dorsiflexor weakness OMIM:618400
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Upper limb muscle weakness, Distal amyotrophy, Foot dorsiflexor weakness OMIM:302801
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:251274
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... OMIM:616924
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Upper limb muscle weakness, Distal amyotrophy, Foot dorsiflexor weakness OMIM:607678
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Distal amyotrophy OMIM:158580
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Amyotrophy of an... ORPHA:399086
Muscular Dystrophy, Congenital, Lmna-Related
Hip contracture, Elbow contracture, Scapuloperoneal amyotrophy, Achilles tendon contracture, Hams... OMIM:613205
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... ORPHA:90791
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Skeletal muscle atrophy, Failure to thrive, Type 1 muscle fiber predominance OMIM:618276
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Nemaline Myopathy 2
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Slender build, Thenar muscle atrophy, Fat... OMIM:256030
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Autosomal Recessive Spastic Paraplegia Type 76
Skeletal muscle atrophy, Lower limb muscle weakness ORPHA:488594
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Flexion contracture, Small for gestational age, Centrally nucleated skele... OMIM:615368
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... OMIM:619473
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... OMIM:618654
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Upper limb muscle weakness, Distal amyotrophy OMIM:607677
Muscular Dystrophy, Congenital, 1B
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... OMIM:604801
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... OMIM:619903
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Achilles tendon contracture, Proximal amyotrophy, Skeletal myopathy... ORPHA:2596
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred... ORPHA:424107
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Distal amyotrophy, Foot dorsiflexor weakness OMIM:607731
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... OMIM:619566
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contr... ORPHA:75840
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... OMIM:620386
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal amyotrophy OMIM:608673
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Distal amyotrophy OMIM:605589
Spinal Muscular Atrophy, Ryukyuan Type
Spinal muscular atrophy, Proximal amyotrophy OMIM:271200
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hypertriglyceridemia, Centrally nucleated skeletal muscle fibers, ... OMIM:613327
Myosclerosis, Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Neck joint contracture, Facial palsy OMIM:255600
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Extensor Tendons Of Finger Anomalies
Skeletal muscle atrophy, Camptodactyly of finger ORPHA:3294
Scapuloperoneal Myopathy, X-Linked Dominant
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... OMIM:300695
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... OMIM:160565
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Hand muscle atrophy, Facial palsy, Flexion contracture, Distal amyotrophy, Hammertoe, Ulnar claw,... OMIM:607684
Spastic Paraplegia 70, Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture OMIM:620323
Myasthenic Syndrome, Congenital, 12
Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy OMIM:610542
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... OMIM:616052
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:617070
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... OMIM:310440
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Upper limb muscle weakness, Distal amyotrophy, Hand muscle weakness OMIM:608323
Distal Myotilinopathy
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... ORPHA:98911
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Failure to thrive, Elevated circulating alanine a... OMIM:613752
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... OMIM:262400
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... OMIM:606070
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi... OMIM:253700
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, Muscle fi... OMIM:603511
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... OMIM:300718
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... ORPHA:352479
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Decreased body weigh... OMIM:300580
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Anterior hypopituitarism, Ragged-red muscle fibers ORPHA:480
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... ORPHA:403
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Clubbing of fingers, T... OMIM:619574
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... OMIM:605355
Microcephaly, Seizures, And Developmental Delay
Skeletal muscle atrophy OMIM:613402
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... OMIM:300717
Nathalie Syndrome
Skeletal muscle atrophy OMIM:255990
Spinal Muscular Atrophy, Type Ii
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:253550
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Spastic Paraplegia 45, Autosomal Recessive
Skeletal muscle atrophy, Flexion contracture, Talipes equinovarus OMIM:613162
Congenital Myopathy 10A, Severe Variant
Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib... OMIM:614399
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Diabetes mellitus, Insulin resistance, Hyperlipidemia, Myopathy, Abdomin... OMIM:615980
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Spinal muscular atrophy, Scapuloperoneal amyotrophy, Distal amyotrophy, Talipes equinovarus, Join... OMIM:611067
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... OMIM:603689
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Mitochondrial Complex I Deficiency, Nuclear Type 25
Myopathy, Failure to thrive, Nemaline bodies OMIM:618246
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Unsteady gait, Blepharospasm, Falls, Gait imbalance, Loss of ... ORPHA:240094
Myopathy, Myofibrillar, 2
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... OMIM:608810
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... OMIM:605637
Oliver-Mcfarlane Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Hypogonadotropi... OMIM:275400
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... ORPHA:171445
X-Linked Charcot-Marie-Tooth Disease Type 3
Distal lower limb amyotrophy, Hand muscle weakness, Intrinsic hand muscle atrophy, Proximal muscl... ORPHA:101077
Congenital Myopathy 14
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... OMIM:618414
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... OMIM:614302
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma, Increased intramyocellular lipid droplets, Ab... ORPHA:681
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Distal amyotrophy ORPHA:639
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Bethlem Myopathy 2
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter OMIM:616471
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co... OMIM:620351
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Decreased circulating aldosterone level, Increased ci... OMIM:610600
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Proximal a... ORPHA:206559
Spastic Paraplegia With Neuropathy And Poikiloderma
Distal amyotrophy OMIM:182815
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Generalized amyotrophy ORPHA:2589
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Talipes cavus equinovarus, Abnormality of the calf musculature, Proximal... ORPHA:59135
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ... OMIM:620265
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Failure to thrive, Ragged-red muscle fibers, Generalized amyotrophy OMIM:613561
Spinocerebellar Ataxia Type 21
Tremor, Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Skeletal muscle atrophy, Delayed puberty, Decreased body weight ORPHA:477814
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Central Core Disease
Multiple joint contractures, Myopathy, Talipes equinovarus, Type 1 muscle fiber predominance, Pel... ORPHA:597
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Proximal amyotrophy OMIM:253300
Cushing Disease
Increased urinary cortisol level, Diabetes mellitus, Impaired glucose tolerance, Adrenal hyperpla... ORPHA:96253
Congenital Muscular Dystrophy Without Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... ORPHA:370980
Nemaline Myopathy 10
Skeletal muscle atrophy, Facial palsy, Fatty replacement of skeletal muscle, Flexion contracture,... OMIM:616165
Atypical Juvenile Parkinsonism
Resting tremor, Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Dystonia, Short stepped... ORPHA:391411
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Facial palsy, Hammertoe, Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness OMIM:118210
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Failure to thrive in infancy, Intrinsic hand muscle atrophy, Upper ... ORPHA:90103
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... OMIM:617114
Mitochondrial Complex I Deficiency, Nuclear Type 23
Skeletal muscle atrophy OMIM:618244
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Macroglossia, Calf muscle hypertrophy, Talipes equinovarus, Muscular dys... OMIM:616827
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Hand muscle weakness, Abnormality of the foot musculature, Split hand, Dista... ORPHA:100998
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Failure to thrive in infancy, Increased intramyoc... OMIM:619065
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Lower-limb joint contracture, Talipes equinovarus OMIM:613710
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Akinesia, Dystonia, Freezing of gait OMIM:619911
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... ORPHA:1145
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... OMIM:613157
Mitochondrial Complex I Deficiency, Nuclear Type 31
Skeletal muscle atrophy, Failure to thrive OMIM:618251
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Upper limb muscle weakness, Distal amyotrophy OMIM:607791
Neuropathy, Congenital Hypomyelinating, 2
Skeletal muscle atrophy, Distal amyotrophy, Facial diplegia OMIM:618184
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... OMIM:619790
Myopathy Due To Myoadenylate Deaminase Deficiency
Skeletal muscle atrophy, Reduced muscle myoadenylate deaminase activity, Rhabdomyolysis, Myopathy OMIM:615511
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Calf muscle hypertrophy, Scapular winging, Muscular dystrophy, Proximal amyotrophy OMIM:601287
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina... ORPHA:98902
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting OMIM:609452
X-Linked Intellectual Disability, Miles-Carpenter Type
Skeletal muscle atrophy, Hypogonadism, Rocker bottom foot ORPHA:85283
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hypoglycemia, Hyperlipidemia, Myopathy, Distal amyotrophy OMIM:232400
Myotubular Myopathy With Abnormal Genital Development
Bilateral cryptorchidism, Myopathy, Unilateral cryptorchidism, Centrally nucleated skeletal muscl... OMIM:300219
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Late-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Elevated serum 11-deoxycortisol, Increased circulating... ORPHA:556037
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:617950
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Facioscapulohumeral Muscular Dystrophy 1
Skeletal muscle atrophy, Scapular winging, Facial palsy, Calf muscle hypertrophy, Shoulder girdle... OMIM:158900
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal muscle atrophy, ... ORPHA:399096
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy OMIM:607855
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Upper limb muscle weakness, Distal amyotrophy OMIM:605253
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Kennedy Disease
Skeletal muscle atrophy, Testicular atrophy, Type II diabetes mellitus ORPHA:481
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Skeletal muscle atrophy, Foot dorsiflexor weakness OMIM:137200
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Plantar flexion contracture, Arthrogryposis-like hand anomaly, Distal ar... OMIM:620011
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... OMIM:607459
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy OMIM:613723
Rigid Spine Syndrome
Hip contracture, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Myop... ORPHA:97244
Early-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Elevated serum 11-deoxycortisol, Increased circulating... ORPHA:556030
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Slender build... OMIM:254090
Ataxia-Telangiectasia
Elevated hepatic transaminase, Skeletal muscle atrophy, Diabetes mellitus, Abnormal testis morpho... ORPHA:100
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia... OMIM:175700
Charcot-Marie-Tooth Disease Type 2B1
Hand muscle atrophy, Toe extensor amyotrophy, Pelvic girdle muscle atrophy, Hand muscle weakness,... ORPHA:98856
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1... ORPHA:171442
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Distal amyotrophy, Spinal muscular atrophy, Foot dorsiflexor weakness OMIM:617207
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... ORPHA:353
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... ORPHA:369929
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elbow flexion contracture, Muscular dystrophy, Generalized amyotrophy, Join... OMIM:616516
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop... OMIM:620285
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... ORPHA:171433
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy ORPHA:868
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers, Slender build, Cachexia, Weight loss OMIM:613662
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Diastasis recti, Small for gestational age, Polydactyly, Decreased body weight, Cli... ORPHA:231140
Childhood-Onset Nemaline Myopathy
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... ORPHA:171439
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Achilles tendon ... ORPHA:98855
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy ORPHA:247604
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Distal amyotrophy, Generali... OMIM:617519
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, General... ORPHA:324604
Developmental And Epileptic Encephalopathy 86
Small for gestational age, Generalized amyotrophy OMIM:618910
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Facial diplegia, Distal arthrogryposis, Knee flexion contracture OMIM:616286
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Roussy-Lévy Syndrome
Skeletal muscle atrophy, Intrinsic hand muscle atrophy, Genu valgum, Distal amyotrophy, Talipes e... ORPHA:3115
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Limb muscle weakness OMIM:607458
Charcot-Marie-Tooth Disease, Type 4B1
Talipes equinovarus, Distal amyotrophy, Facial palsy OMIM:601382
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Distal amyotrophy, Hammertoe, Foot dorsiflexor weakness, Thenar muscle atrophy OMIM:606483
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... OMIM:613954
Corticobasal Syndrome
Limb dystonia, Akinesia, Tremor, Gait disturbance, Dystonia ORPHA:454887
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy OMIM:205250
Aceruloplasminemia
Torticollis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc... ORPHA:48818
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Hypoglycemia, Transient hyperlipidemia, H... ORPHA:156
Spinocerebellar Ataxia 21
Ataxia, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Dysto... OMIM:607454
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... OMIM:609560
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ragged-red muscle fibers OMIM:615159
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Upper limb amyotrophy, Knee flexion contracture, Talipes... ORPHA:496689
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Arthrogryposis multiplex congenita,... OMIM:608931
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy OMIM:612998
Sandhoff Disease, Juvenile Form
Skeletal muscle atrophy, Reduced beta-hexosaminidase activity, Failure to thrive, Limb joint cont... ORPHA:309162
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Flexion contracture, Myopathy, Cachexia ORPHA:157973
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy, Ragged-red muscle fibers OMIM:618242
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Distal amyotrophy, Decreased phosphoribosylpyrophosphate synthetase level OMIM:311070
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Distal amyotrophy, Weakness of facial musculature, Failure to thrive, Foot d... OMIM:618811
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi... OMIM:618138
Amyotrophic Lateral Sclerosis 11
Skeletal muscle atrophy OMIM:612577
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness... ORPHA:353327
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib... OMIM:616503
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Skeletal muscle atrophy, Limb muscle weakness OMIM:620378
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst... OMIM:253600
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... OMIM:310300
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... OMIM:620249
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... ORPHA:293964
Spastic Paraplegia 17, Autosomal Dominant
Thenar muscle atrophy, Thenar muscle weakness, Split hand, Distal amyotrophy, First dorsal intero... OMIM:270685
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... ORPHA:254864
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Skeletal muscle atrophy, Elevated alkaline phosphatase of bone ori... OMIM:616828
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Myopathy, Diabetes mellitus, Ragged-red muscle fibers OMIM:540000
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Hand muscle atrophy, Intrinsic hand muscle atrophy, Upper limb muscle weakness, Type 2 muscle fib... OMIM:601462
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Reduced circulating aldolase concentratio... ORPHA:57
Congenital Myopathy 24
Scapular winging, Facial palsy, Talipes equinovarus, Type 1 muscle fiber predominance, Nemaline b... OMIM:617336
Charcot-Marie-Tooth Disease And Deafness
Thenar muscle atrophy, Thenar muscle weakness, Split hand, Distal amyotrophy, Hammertoe, Limb mus... OMIM:118300
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... ORPHA:231580
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Rocker bottom foot, Cryptorchidism, Camptodactyly, Arthrogryposis multip... OMIM:618393
Camurati-Engelmann Disease, Type 2
Hip contracture, Skeletal muscle atrophy, Knee flexion contracture, Elevated circulating alkaline... OMIM:606631
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy OMIM:619099
Siddiqi Syndrome
Flexion contracture, Lower limb amyotrophy OMIM:618635
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Skeletal muscle atrophy, Spinal muscular atrophy, Progressive distal muscular atrophy, Facial palsy OMIM:159950
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Achilles tendon ... ORPHA:98863
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Limb muscle weakness, Myopathy, Type 1 muscle fiber predominance, Type 2 m... OMIM:603034
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Achilles tendon ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Achilles tendon ... ORPHA:98853
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Skeletal muscle atrophy, Ulnar deviation of the hand, Limb joint contracture, Hypogonadotropic hy... OMIM:612079
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Limb muscle weakness, Type 1 muscle fiber predominance, Arthrogryposis multiplex co... OMIM:161800
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy ORPHA:99944
Spastic Paraplegia 2, X-Linked
Skeletal muscle atrophy, Flexion contracture, Lower limb muscle weakness OMIM:312920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a... OMIM:606612
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level ORPHA:96181
Charcot-Marie-Tooth Disease Type 1A
Calf muscle hypertrophy, Skeletal muscle atrophy ORPHA:101081
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy OMIM:205200
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Cryptorchidism, Flexion contracture, Arthrogryposis multiplex congenita, Clinodactyly, Increased ... ORPHA:178148
Flynn-Aird Syndrome
Skeletal muscle atrophy, Cachexia, Abnormality of the thyroid gland, Primary adrenal insufficienc... ORPHA:2047
Cap Myopathy
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In... ORPHA:171881
Marinesco-Sjögren Syndrome
Short palm, Skeletal muscle atrophy, Coxa valga, Avascular necrosis of the capital femoral epiphy... ORPHA:559
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Failure to thrive, Left ventricular noncompaction... OMIM:617228
Cog8-Cdg
Elevated hepatic transaminase, Skeletal muscle atrophy, Failure to thrive, Hypoglycemia ORPHA:95428
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619048
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Hypoglycemia, Cachexia, Abnormal lactate ... ORPHA:42
Mitochondrial Dna Depletion Syndrome 11
Hypergonadotropic hypogonadism, Facial palsy, Ragged-red muscle fibers, Proximal amyotrophy, Gene... OMIM:615084
Combined Oxidative Phosphorylation Deficiency 34
Hypoglycemia, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulating hormone co... OMIM:617872
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Facial pal... OMIM:606407
Fried Syndrome
Skeletal muscle atrophy ORPHA:85335
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... OMIM:616867
Bethlem Myopathy
Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ... ORPHA:610
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter, Cryptorchidism OMIM:616816
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Thyrocerebroretinal Syndrome
Skeletal muscle atrophy, Goiter OMIM:274240
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... OMIM:201810
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Skeletal muscle atrophy OMIM:183050
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia, Proximal amyotrophy OMIM:604484
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles... ORPHA:98913
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy OMIM:611895
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... ORPHA:2926
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Skeletal muscle atrophy, Delayed menarche ORPHA:330050
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Failure to thrive OMIM:614096
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Lower limb hypertonia, Diabetes mellitus, Lower limb muscle weakness, Generalized amyotrophy ORPHA:1177
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven... OMIM:615418
Charcot-Marie-Tooth Disease, Type 4B3
Skeletal muscle atrophy, Syndactyly, Upper limb muscle weakness, Distal lower limb muscle weaknes... OMIM:615284
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Neurogenic Arthrogryposis Multiplex Congenita
Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ... ORPHA:1143
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy ORPHA:101078
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs ORPHA:565899
Congenital Myopathy 15
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... OMIM:620161
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... OMIM:202010
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Upper limb muscle weakness, Distal amyotrophy, Foot dorsiflexor weakness OMIM:302802
Melorheostosis
Skeletal muscle atrophy, Failure to thrive ORPHA:2485
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy OMIM:254950
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Diabetes mellitus, Hypertriglyceridemia, Hand muscle weakness, Fat... ORPHA:98908
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Hand ... ORPHA:101097
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers OMIM:618416
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Failure to thrive, Flexion contracture OMIM:620240
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotransferase concentration, El... OMIM:271245
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle hypertrophy, Skeletal muscle atrophy ORPHA:101082
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy OMIM:614808
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Facial palsy, Cachexia, Hypogonadism, Limb muscle weakness, Diabetes ins... ORPHA:97229
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Skeletal muscle atrophy OMIM:617892
Autosomal Dominant Spastic Paraplegia Type 6
Skeletal muscle atrophy ORPHA:100988
X-Linked Intellectual Disability, Seemanova Type
Skeletal muscle atrophy, Small for gestational age, Hypoplasia of the musculature, Cryptorchidism... ORPHA:85323
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... OMIM:616470
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrat... OMIM:245400
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Generalized amyotrophy OMIM:610006
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Proximal amyotrophy OMIM:608030
Spastic Paraplegia 76, Autosomal Recessive
Skeletal muscle atrophy, Lower limb muscle weakness OMIM:616907
Deafness-Vitiligo-Achalasia Syndrome
Skeletal muscle atrophy ORPHA:3239
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Abnormal vesti... ORPHA:247234
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Rocker bottom foot, Cryptorchidism, Facial diplegia, Talipes equinovarus... OMIM:611890
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... ORPHA:329478
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness,... OMIM:615156
Spinocerebellar Ataxia, Autosomal Recessive 21
Skeletal muscle atrophy, Hepatic failure, Talipes equinovarus OMIM:616719
Ataxia-Deafness-Intellectual Disability Syndrome
Skeletal muscle atrophy ORPHA:1188
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atrophy, Myopathy, Weaknes... ORPHA:254875
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hypoglycemia OMIM:261650
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Decreased beta-galactosidase activity OMIM:230650
Allan-Herndon-Dudley Syndrome
Skeletal muscle atrophy, Small for gestational age, Failure to thrive in infancy, Abnormality of ... ORPHA:59
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy ORPHA:2400
Juvenile Hyaline Fibromatosis
Skeletal muscle atrophy, Abnormal diaphysis morphology, Progressive flexion contractures ORPHA:2028
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormal circulating enzyme concentration... ORPHA:79240
Cleft Palate-Large Ears-Small Head Syndrome
Skeletal muscle atrophy, Short distal phalanx of finger, Ulnar deviation of finger ORPHA:2013
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Akinesia, Tremor, Blepharospasm, Falls, Gait imbalance, Dystonia ORPHA:240071
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Distal amyotrophy, Split hand, Talipes equinovarus OMIM:607831
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Decreased muscle mass, Hypogonadotropic hypogonadism, Hypergonadot... ORPHA:298
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture ORPHA:98896
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Akinesia, Dystonia OMIM:300894
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Myopathy ORPHA:300179
Autosomal Recessive Spastic Paraplegia Type 26
Skeletal muscle atrophy, Decreased serum testosterone concentration ORPHA:101006
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Portal hypertension, Hepatic failure, Arthrogryposis multiplex congenita... OMIM:232500
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Skeletal muscle atrophy, Distal amyotrophy, Limb muscle weakness, Intrinsic hand muscle atrophy OMIM:614895
Donohue Syndrome
Skeletal muscle atrophy, Precocious puberty, Hyperinsulinemia, Ovarian cyst, Large hands, Severe ... OMIM:246200
Spinocerebellar Ataxia 28
Lower limb hypertonia, Ragged-red muscle fibers OMIM:610246
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Distal amyotrophy, Proximal amyotrophy OMIM:608627
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Skeletal muscle atrophy, Premature pubarche, Foot joint contracture, Cryptorchidism ORPHA:457205
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers ORPHA:477774
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Myopathy, Muscle ... ORPHA:254886
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogona... ORPHA:453533
Perry Syndrome
Tremor, Short stepped shuffling gait, Akinesia, Dystonia OMIM:168605
Combined Oxidative Phosphorylation Defect Type 13
Hip contracture, Ankle flexion contracture, Lower limb hypertonia, Type 1 muscle fiber predominan... ORPHA:319514
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchidism, Increased... OMIM:614736
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Skeletal muscle atrophy, Failure to thrive OMIM:618228
Spastic Paraplegia Type 7
Upper limb muscle weakness, Lower limb hypertonia, Ragged-red muscle fibers, Lower limb muscle we... ORPHA:99013
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... ORPHA:206569
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Flexion contracture, Left ventricular noncompaction, Increased intramyo... OMIM:252011
Pparg-Related Familial Partial Lipodystrophy
Calf muscle pseudohypertrophy, Diabetes mellitus, Hypertriglyceridemia, Maternal diabetes, Abnorm... ORPHA:79083
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Fatty replacement of skeletal muscle, Elevated circulating alkaline phosphatase concentration, Ge... ORPHA:52430
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Spastic Paraplegia 11, Autosomal Recessive
Skeletal muscle atrophy, Lower limb muscle weakness, Obesity, Thenar muscle atrophy OMIM:604360
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Hypergonadotropic hypogonadism, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Weakn... ORPHA:352447
Combined Oxidative Phosphorylation Deficiency 19
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615595
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Musc... ORPHA:369840
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Thenar muscle atrophy, Distal lower limb muscle weakness, Interosse... OMIM:500013
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Diabetes mellitus, Abnormality of the thyroid gland, Ragged-red muscle fibers, Limb muscle weakne... OMIM:609286
Neuropathy, Congenital, With Arthrogryposis Multiplex
Arthrogryposis multiplex congenita, Distal amyotrophy, Calcaneovalgus deformity OMIM:162370
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Small for gestational age, Spinal muscular atrophy, Camptodactyly of finger, Denervation of the d... OMIM:604320
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Akinesia, Tremor, Gait disturbance, Dystonia OMIM:606693
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Hypogonadotropic hypogonadism, Facial palsy, Abnormal muscle fiber morph... ORPHA:3068
Autosomal Recessive Spastic Paraplegia Type 66
Lower limb amyotrophy, Talipes equinovarus, Limb hypertonia ORPHA:401815
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy, Delayed puberty, Hyp... OMIM:600462
Mitochondrial Complex I Deficiency, Nuclear Type 28
Choreoathetosis, Hyperalaninemia, Akinesia, Truncal ataxia OMIM:618249
Intellectual Disability-Developmental Delay-Contractures Syndrome
Clinodactyly of the 5th finger, Distal amyotrophy, Congenital foot contractures ORPHA:3454
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Small thenar eminence, Distal lower limb muscle weakness, Tendon rupture, Fiber... OMIM:620080
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Skeletal muscle atrophy, Joint contracture, Delayed puberty OMIM:615704
Ane Syndrome
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Ulnar deviation of the... ORPHA:157954
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Failure to thrive, Portal hypertension, F... ORPHA:367
Renpenning Syndrome
Skeletal muscle atrophy, Diabetes mellitus, Cachexia, Abnormal thumb morphology, Clinodactyly of ... ORPHA:3242
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormal circulating enzyme concentration... ORPHA:264580
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy OMIM:616684
Pontocerebellar Hypoplasia Type 1
Skeletal muscle atrophy, Failure to thrive, Arthrogryposis multiplex congenita ORPHA:2254
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Jaundice, Adrenocorticotropic hormone d... OMIM:201400
Rhizomelic Chondrodysplasia Punctata, Type 5
Skeletal muscle atrophy, Short humerus, Swan neck-like deformities of the fingers, Coxa vara, Con... OMIM:616716
Manganese Poisoning
Postural tremor, Gait disturbance, Akinesia, Dystonia ORPHA:306682
Muscular Dystrophy, Congenital, Megaconial Type
Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy OMIM:602541
Congenital Myopathy 12
Abnormal circulating creatine kinase concentration, Akinesia OMIM:612540
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Skeletal muscle atrophy OMIM:612069
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Skeletal muscle atrophy OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Skeletal muscle atrophy OMIM:616437
Congenital Myopathy 19
Skeletal muscle atrophy, Congenital contracture, Facial hypotonia, Cryptorchidism OMIM:618578
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Skeletal muscle atrophy, Failure to thrive OMIM:618603
Familial Partial Lipodystrophy, Dunnigan Type
Diabetes mellitus, Hypertriglyceridemia, Abnormality of skeletal muscle fiber size, Insulin resis... ORPHA:2348
Leber Optic Atrophy And Dystonia
Skeletal muscle atrophy OMIM:500001
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter OMIM:617915
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle fiber atrophy, Reduced carnitine O-palmitoyltransferase level, Rhabdomyolysis, Increased m... ORPHA:228302
Mitochondrial Complex I Deficiency, Nuclear Type 17
Skeletal muscle atrophy OMIM:618239
Myotonic Dystrophy 2
Insulin insensitivity, Hypogonadism, Type II diabetes mellitus, Generalized amyotrophy, Elevated ... OMIM:602668
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Akinesia, Limb dystonia OMIM:616840
Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy OMIM:105400
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... ORPHA:119
Glycogen Storage Disease Vii
Increased circulating lactate dehydrogenase concentration, Jaundice, Increased muscle glycogen co... OMIM:232800
Combined Oxidative Phosphorylation Deficiency 13
Skeletal muscle atrophy OMIM:614932
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ... OMIM:258450
Boucher-Neuhauser Syndrome
Decreased circulating gonadotropin concentration, Distal amyotrophy, Hypogonadotropic hypogonadism OMIM:215470
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis, Congenital diaphragmatic hernia OMIM:611812
Galactokinase Deficiency
Abnormal circulating enzyme concentration or activity, Small for gestational age, Hypoglycemia, H... ORPHA:79237
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... ORPHA:171430
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy, Abnormal salivary gland morphology ORPHA:31
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy, Foot acroosteolysis, Tapered finger ORPHA:970
Amyotrophic Dystonic Paraplegia
Skeletal muscle atrophy OMIM:105300
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... OMIM:619334
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Cryptorchidism, Hypothyroidism, De... ORPHA:95496
Pontocerebellar Hypoplasia, Type 11
Skeletal muscle atrophy, Talipes equinovarus, Decreased body weight OMIM:617695
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Knee flexion contracture, Weight loss, Distal amyotrophy, Skeletal myopa... ORPHA:3208
Congenital Myopathy 9A
Akinesia OMIM:618822
Deafness, Congenital, With Vitiligo And Achalasia
Skeletal muscle atrophy OMIM:221350
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... OMIM:616866
Niemann-Pick Disease, Type A
Skeletal muscle atrophy, Elevated circulating aspartate aminotransferase concentration, Elevated ... OMIM:257200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness OMIM:616479
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Adren... ORPHA:199296
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Limb muscle weakness, Weakness of facial musculature ORPHA:329336
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... ORPHA:600
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Hypoparathyroidism, Distal amyotrophy, Spinal muscular atrophy, Foot dorsiflexor weakness ORPHA:496756
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy ORPHA:98757
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Left ventricular hypertrophy, Failure to thrive, Decre... ORPHA:320
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Impaired glucose tolerance, Pituitary adenoma, Obesity, Increased circul... OMIM:219090
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Streak ovary, Increased circulating gonadotropin level, Testicular dysge... ORPHA:168563
Becker Muscular Dystrophy
Elevated hepatic transaminase, Skeletal muscle atrophy ORPHA:98895
Kearns-Sayre Syndrome
Hypoparathyroidism, Diabetes mellitus, Ragged-red muscle fibers, Primary adrenal insufficiency OMIM:530000
Deafness, X-Linked 5, With Peripheral Neuropathy
Skeletal muscle atrophy OMIM:300614
Overlap Myositis
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Subluxation of the small ... ORPHA:206572
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Cachexia ORPHA:1933
Classical-Like Ehlers-Danlos Syndrome Type 1
Skeletal muscle atrophy, Adrenal hypoplasia ORPHA:230839
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Skeletal muscle atrophy, Joint contracture, Talipes equinovarus OMIM:617481
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Upper limb muscle weakness, Calf muscle hypertrophy, Lower limb muscle weakness, Proximal amyotrophy ORPHA:209335
Facioscapulohumeral Dystrophy
Skeletal muscle atrophy ORPHA:269
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Skeletal muscle atrophy ORPHA:2840
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Propionyl-CoA carboxylase deficiency, Skeletal muscle atrophy, Failure to thrive, Hypoglycemia OMIM:210210
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Hashimoto thyroiditis, Thymoma, Proximal amyotrophy OMIM:159400
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Enlarged polycyst... ORPHA:90796
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... OMIM:620278
Borjeson-Forssman-Lehmann Syndrome
Skeletal muscle atrophy, Tapered finger, Cryptorchidism, Short toe, Truncal obesity, Hypogonadism... ORPHA:127
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Skeletal muscle atrophy, Joint contracture, Cryptorchidism OMIM:615419
Combined Oxidative Phosphorylation Deficiency 7
Skeletal muscle atrophy, Failure to thrive, Facial diplegia, Facial paralysis OMIM:613559
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Diabetes mellitus ORPHA:96
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Hypoplasia of the musculature OMIM:253310
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Myopathy, Cachexia ORPHA:1876
Ruijs-Aalfs Syndrome
Skeletal muscle atrophy, Elbow flexion contracture, Hypogonadism, Decreased body weight, Clinodac... OMIM:616200
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Failure to thrive, Ulnar deviation of the 3rd finger, Foot joint contracture, Facial palsy, Proxi... ORPHA:456312
Bardet-Biedl Syndrome
Skeletal muscle atrophy, Finger syndactyly, Cryptorchidism, Postaxial hand polydactyly, Obesity, ... ORPHA:110
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... OMIM:619461
Lissencephaly 8
Skeletal muscle atrophy, Talipes equinovarus OMIM:617255
Polymyositis
Elevated circulating aldolase concentration, Weight loss, Abnormal muscle fiber morphology ORPHA:732
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... ORPHA:397744
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Cachexia, Upper-limb joint contracture, Distal amyotrophy, Lower-limb jo... ORPHA:300605
Genetic Recurrent Myoglobinuria
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Myositis, Viral infection... ORPHA:99845
Myotonia, Potassium-Aggravated
Skeletal muscle hypertrophy, Skeletal muscle atrophy OMIM:608390
Postencephalitic Parkinsonism
Resting tremor, Oculogyric crisis, Tremor by anatomical site, Akinesia ORPHA:97349
Primary Triglyceride Deposit Cardiomyovasculopathy
Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Hyperlipidemia, Increas... ORPHA:565612
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Facial palsy, Ragged-red muscle fibers, ... OMIM:157640
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Skeletal muscle atrophy OMIM:616896
Autosomal Dominant Optic Atrophy, Classic Form
Skeletal muscle atrophy, Scapular winging, Diabetes mellitus, Myopathy, Hypogonadism, Weakness of... ORPHA:98673
Microhydranencephaly
Talipes equinovarus, Skeletal muscle atrophy, Multiple joint contractures, Generalized amyotrophy OMIM:605013
Glycogen Storage Disease Xii
Jaundice, Elevated circulating alanine aminotransferase concentration, Increased variability in m... OMIM:611881
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Abnormal muscle fiber morpholog... ORPHA:79102
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2
Skeletal muscle atrophy OMIM:619759
Sialidosis Type 2
Skeletal muscle atrophy, Flexion contracture ORPHA:87876
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy OMIM:105550
Typical Nemaline Myopathy
Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f... ORPHA:171436
Doors Syndrome
Adrenal hyperplasia, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal toe morphology,... ORPHA:79500
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Failure to thrive, Elevated circulating alanine aminotransferase concent... OMIM:614300
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Distal lower limb amyotrophy, Pro... ORPHA:101085
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Developmental And Epileptic Encephalopathy 51
Skeletal muscle atrophy, Failure to thrive, Supernumerary nipple OMIM:617339
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Hip contracture, Bowing of the long bones, Shoulder flexion contracture,... OMIM:255800
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature OMIM:616239
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers ORPHA:1349
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Hypoglycemia, Generalized amyotrophy, Limb hypertonia OMIM:617710
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Arachnodactyly, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance... OMIM:619036
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Skeletal muscle atrophy, Limb muscle weakness OMIM:612300
Pontocerebellar Hypoplasia, Type 16
Skeletal muscle atrophy, Limb hypertonia OMIM:619527
Pontocerebellar Hypoplasia, Type 1B
Skeletal muscle atrophy, Flexion contracture OMIM:614678
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Multiple joint contractures, Femur fracture, Ulnar deviation of the hand... OMIM:618291
Richards-Rundle Syndrome
Distal amyotrophy, Hypergonadotropic hypogonadism ORPHA:1399
Spinal muscular atrophy, type I, with congenital bone fractures
Decreased muscle mass, Arachnodactyly, Rocker bottom foot, Acute infantile spinal muscular atroph... OMIM:271225
Glycogen Storage Disease Xv
Scapular winging, Type 1 muscle fiber predominance OMIM:613507
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Type 2 muscle fiber atrophy, Diabetes mellitus OMIM:613845
Spastic Paraplegia 39, Autosomal Recessive
Distal amyotrophy, Distal lower limb muscle weakness OMIM:612020
Amyotrophy, Hereditary Neuralgic
Skeletal muscle atrophy OMIM:162100
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Combined Oxidative Phosphorylation Defect Type 7
Skeletal muscle atrophy, Upper limb muscle weakness, Facial diplegia, Distal amyotrophy, Failure ... ORPHA:254930
Leukodystrophy, Hypomyelinating, 10
Skeletal muscle atrophy, Failure to thrive, Arachnodactyly OMIM:616420
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Hyperalaninemia, Akinesia OMIM:619147
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Tapered finger, Long fingers, Flexion contracture, 2-3 toe syndactyly, F... OMIM:218000
Snakebite Envenomation
Hypopituitarism, Rhabdomyolysis, Muscle fiber necrosis ORPHA:449285
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc... OMIM:255125
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Ragged-red muscle fibers, Elevated circulating aspartate aminotransferase conc... OMIM:614924
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated hepatic transaminase, Diabetes mellitus, Hyperthyroidism, Facial palsy, Goiter, Quadrice... ORPHA:254892
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Scapular winging, Abnormal circulating enzyme concentration or activity,... ORPHA:98915
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Skeletal muscle atrophy, Short humerus, Short femur, Abnormal circ... ORPHA:17
12Q14 Microdeletion Syndrome
Clinodactyly of the 5th finger, Skeletal muscle atrophy, Failure to thrive, Diabetes mellitus ORPHA:94063
L1 Syndrome
Skeletal muscle atrophy, Adducted thumb ORPHA:275543
Combined Oxidative Phosphorylation Deficiency 18
Skeletal muscle atrophy OMIM:615578
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hypertriglyceridemia, Hypoglycemia, Bile duct proliferation, Fasti... OMIM:613027
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:85329
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating aspartate aminotransferase concentration, Flexion contracture, Muscular dyst... OMIM:613154
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:226307
Graft Versus Host Disease
Elevated hepatic transaminase, Skeletal muscle atrophy, Myositis, Dupuytren contracture, Jaundice... ORPHA:39812
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Muscle fiber splitting OMIM:606408
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Skeletal muscle atrophy, Failure to thrive, Facial diplegia, Small for gestational age OMIM:612073
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, J... OMIM:617049
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Skeletal muscle atrophy OMIM:162400
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy, Rhabdomyolysis, Glycogen accumulation... ORPHA:368
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Diabetes mellitus, Hypoglycemia, Large for gestational age, Elevat... OMIM:616026
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Skeletal muscle atrophy, Unilateral cryptorchidism OMIM:618862
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long toe, Skeletal muscle atrophy, Arachnodactyly, Cryptorchidism, Flexion contracture, Testicula... ORPHA:75496
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Scapular winging, Hypoglycemia, Rhabdomyo... ORPHA:26791
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrat... OMIM:608779
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical ... OMIM:112250
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Elevated hepatic transaminase, Skeletal muscle atrophy, Small for gestational age, Type 2 muscle ... OMIM:615471
Rett Syndrome
Skeletal muscle atrophy, Failure to thrive, Increased serum leptin ORPHA:778
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Cryptor... OMIM:307030
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa... OMIM:617093
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle, Hypergonadotropic h... OMIM:607426
Postpoliomyelitis Syndrome
Skeletal muscle atrophy ORPHA:2942
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Facial palsy, Weight loss, Distal amyotrophy, Increased variability in muscl... OMIM:164310
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Skeletal muscle atrophy, Arachnodactyly, Wide distal femoral metaphysis, Femor... OMIM:614856
Spinocerebellar Ataxia Type 18
Skeletal muscle atrophy ORPHA:98771
Danon Disease
Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,... OMIM:300257
Mitochondrial Complex I Deficiency, Nuclear Type 37
Skeletal muscle atrophy, Failure to thrive OMIM:619272
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Skeletal muscle atrophy, Autoamputation of digits, Failure to thrive, Hypo... OMIM:256810
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Finger syndactyly, Congenital muscular torticollis, Arachnodactyly, Camp... ORPHA:2215
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Hereditary Late-Onset Parkinson Disease
Resting tremor, Shuffling gait, Akinesia, Dystonia ORPHA:411602
Posterior Column Ataxia With Retinitis Pigmentosa
Skeletal muscle atrophy, Flexion contracture of finger, Joint contracture of the hand, Camptodactyly OMIM:609033
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Skeletal muscle atrophy, Flexion contracture, Decreased body weight, Slender finger, Adducted thumb OMIM:300243
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Skeletal muscle atrophy, Broad hallux, Arachnodactyly, Flexion contracture, Failure to thrive, Br... ORPHA:481152
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... OMIM:131100
Supranuclear Palsy, Progressive, 2
Axial dystonia, Postural tremor, Akinesia, Falls, Gait imbalance, Retrocollis OMIM:609454
Amyotrophic Lateral Sclerosis 2, Juvenile
Hand muscle atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Limb joint contractur... OMIM:205100
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy ORPHA:1486
Werner Syndrome
Skeletal muscle atrophy, Rocker bottom foot, Insulin resistance, Small hand, Ovarian neoplasm, Th... ORPHA:902
Hereditary Folate Malabsorption
Skeletal muscle atrophy, Failure to thrive ORPHA:90045
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Finger syndactyly, Cachexia, Abnormality of the thyroid gland, Genu varum ORPHA:1969
Autosomal Recessive Spastic Paraplegia Type 55
Skeletal muscle atrophy, Tibialis muscle weakness, Upper limb muscle weakness, Talipes equinovaru... ORPHA:320375
Hydrolethalus Syndrome 1
Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of hallux, Upper li... OMIM:236680
Supranuclear Palsy, Progressive, 1
Axial dystonia, Akinesia, Tremor, Falls, Gait imbalance, Retrocollis, Limb dystonia OMIM:601104
Rett Syndrome
Short foot, Skeletal muscle atrophy, Cachexia OMIM:312750
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Abnormality of masticatory muscle ORPHA:98755
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia OMIM:618056
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Hypoglycemia, Rhabdomyolysis, Ragged-red muscle fibers, Elevated c... OMIM:124000
Hyperkalemic Periodic Paralysis
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Myopathy ORPHA:682
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response OMIM:620114
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular dystrophy ORPHA:1344
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Decreased muscle mass, Hypoglycemia, Hyperlipidemia, Xanthelasma, ... OMIM:232200
Native American Myopathy
Skeletal muscle atrophy, Cryptorchidism, Abnormality of skeletal muscle fiber size, Congenital co... ORPHA:168572
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Facial palsy OMIM:617143
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Difficulty walking ORPHA:320406
Walker-Warburg Syndrome
Skeletal muscle atrophy, Cryptorchidism, Abnormal lactate dehydrogenase level, Muscular dystrophy... ORPHA:899
Leprechaunism
Skeletal muscle atrophy, Enlarged ovaries, Insulin resistance, Hyperinsulinemia, Central hypothyr... ORPHA:508
Moebius Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Facia... ORPHA:570
Farber Disease
Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormal circulating enzyme concentration... ORPHA:333
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Spastic Paraplegia 9B, Autosomal Recessive
Skeletal muscle atrophy, Foot dorsiflexor weakness OMIM:616586
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Tetraamelia Syndrome 1
Adrenal gland agenesis, Congenital diaphragmatic hernia OMIM:273395
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Hypoglycemia, Cachexia, Hashimoto thyroi... ORPHA:109
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Jaundice, Myopathy, Prolonged neonatal jaundice, Cholelithiasis, Failure... OMIM:615512
Choreoacanthocytosis
Skeletal muscle atrophy, Limb muscle weakness OMIM:200150
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Hypoglycemia, Flexion contracture, Pancreatic hypoplasia, Overlapping fingers,... OMIM:609069
Autosomal Recessive Spastic Paraplegia Type 78
Skeletal muscle atrophy, Facial myokymia ORPHA:513436
Proteasome-Associated Autoinflammatory Syndrome 4
Skeletal muscle atrophy, Myositis, Flexion contracture OMIM:619183
Frontometaphyseal Dysplasia 1
Carpal synostosis, Skeletal muscle atrophy, Scapular winging, Bowing of the long bones, Arachnoda... OMIM:305620
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fing... ORPHA:435638
Camurati-Engelmann Disease
Skeletal muscle atrophy, Abnormal morphology of the radius, Metaphyseal dysplasia, Facial palsy, ... ORPHA:1328
Neuromuscular Oculoauditory Syndrome
Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, Talipes equinovarus, EM... OMIM:618733
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Ragged-red muscle fibers, Weight loss, Distal amyotrophy, Slender build OMIM:603041
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Macroglossia, Muscular ... ORPHA:258
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Skeletal muscle atrophy, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cuppin... OMIM:300232
Mitochondrial Complex I Deficiency, Nuclear Type 32
Skeletal muscle atrophy, Failure to thrive, Small for gestational age OMIM:618252
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Tay-Sachs Disease
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Inability to walk, Dys... ORPHA:845
Camurati-Engelmann Disease
Skeletal muscle atrophy, Diaphyseal sclerosis, Genu valgum, Cortical thickening of long bone diap... OMIM:131300
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Tapered finger, Cryptorchid... OMIM:254940
Neuraminidase Deficiency
Skeletal muscle atrophy OMIM:256550
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Postaxial polydactyly, Knee flexion contracture OMIM:603387
Melas
Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Ragged-red ... ORPHA:550
Lethal Congenital Contracture Syndrome 10
Torticollis, Increased variability in muscle fiber diameter, Femoral bowing, Macroglossia, Hypopl... OMIM:617022
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Ataxia OMIM:616881
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Distal amyotrophy ORPHA:2821
Congenital Myasthenic Syndrome
Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis multiplex co... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis multiplex co... ORPHA:98914
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers ORPHA:70595
Spinocerebellar Ataxia 36
Skeletal muscle atrophy OMIM:614153
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... ORPHA:70
Arthrogryposis And Ectodermal Dysplasia
Skeletal muscle atrophy, Diabetes mellitus, Camptodactyly, Arthrogryposis multiplex congenita, Jo... OMIM:601701
Sandhoff Disease
Macroglossia, Skeletal muscle atrophy, Reduced beta-hexosaminidase activity OMIM:268800
Gaucher Disease, Perinatal Lethal
Akinesia, Opisthotonus OMIM:608013
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Sézary Syndrome
Skeletal muscle atrophy ORPHA:3162
Idiopathic Camptocormia
Myositis, Fatty replacement of skeletal muscle, Abnormal muscle fiber dysferlin, Proximal spinal ... ORPHA:1320
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Skeletal muscle atrophy OMIM:615157
Perlman Syndrome
Hypoglycemia, Congenital diaphragmatic hernia, Large for gestational age, Cryptorchidism, Hypopla... OMIM:267000
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Ulnar deviation of... ORPHA:1358
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Exaggerated startle response, Dystonia ORPHA:438216
Sting-Associated Vasculopathy, Infantile-Onset
Skeletal muscle atrophy, Myositis, Failure to thrive OMIM:615934
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Failure to thrive, Hypoglycemia, Ragged-red muscle fibers, Increased int... OMIM:252010
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Sialidosis Type 1
Skeletal muscle atrophy ORPHA:812
Spinocerebellar Ataxia Type 36
Skeletal muscle atrophy ORPHA:276198
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Abnormal circulating enzyme concentration or activity, Decreased muscle mass, Elbow flexion contr... ORPHA:1900
Immunodeficiency 31C
Skeletal muscle atrophy, Diabetes mellitus, Weight loss, Delayed puberty, Hypothyroidism OMIM:614162
Machado-Joseph Disease Type 1
Distal lower limb amyotrophy, Skeletal muscle atrophy ORPHA:276238
Machado-Joseph Disease Type 2
Distal lower limb amyotrophy, Skeletal muscle atrophy ORPHA:276241
Leigh Syndrome
Abnormal circulating enzyme concentration or activity, Skeletal muscle atrophy, Multiple joint co... ORPHA:506
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Akinesia, Tremor, Choreoathetosis, Blepharospasm, Gait disturbance, Dystonia OMIM:234200
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Skeletal muscle atrophy, Failure to thrive OMIM:615802
Refsum Disease
Skeletal muscle atrophy, Short metacarpal, Hammertoe ORPHA:773
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy ORPHA:803
Trisomy 17P
Skeletal muscle atrophy, Tapered finger, Flexion contracture, Macroglossia, Clinodactyly of the 5... ORPHA:261290
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Failure to thrive OMIM:615895
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Flexion contracture, Decreased body weight, Failure to thrive, Delayed p... ORPHA:89842
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Aplasia/Hypo... ORPHA:2990
Arthrogryposis Multiplex Congenita 5
Dystonia, Akinesia, Hand tremor OMIM:618947
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Broad toe, Hyperthyroidism, Diastasis recti, Decreased response to growt... ORPHA:488632
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Skeletal muscle atrophy, Limb joint contracture, Tapered finger, Flexion contracture, Truncal obe... OMIM:301072
Combined Oxidative Phosphorylation Deficiency 55
Skeletal muscle atrophy, Type 2 muscle fiber predominance, Myopathy, Talipes equinovarus, Genu varum OMIM:619743
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Skeletal muscle atrophy OMIM:620089
Autosomal Recessive Spastic Paraplegia Type 20
Skeletal muscle atrophy, Abnormal thumb morphology, Abnormal hand morphology, Genu valgum, Upper ... ORPHA:101000
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Facial palsy OMIM:211530
Autosomal Recessive Ataxia, Beauce Type
Skeletal muscle atrophy, Lower limb muscle weakness ORPHA:88644
Spinocerebellar Ataxia 1
Skeletal muscle atrophy, Distal amyotrophy OMIM:164400
Machado-Joseph Disease Type 3
Distal lower limb amyotrophy, Skeletal muscle atrophy ORPHA:276244
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Exaggerated startle response OMIM:617864
Adenylosuccinase Deficiency
Skeletal muscle atrophy OMIM:103050
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Micromelia, Coxa vara, Wrist flexion contracture, Abnormal metaphysis mo... ORPHA:800
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Non-medullary thy... ORPHA:273
Atypical Werner Syndrome
Skeletal muscle atrophy, Fasting hyperinsulinemia, Finger clinodactyly, Short palm, Hyperglycemia... ORPHA:79474
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Proteasome-Associated Autoinflammatory Syndrome 1
Hallux valgus, Skeletal muscle atrophy, Elevated hepatic transaminase, Failure to thrive, Impaire... OMIM:256040
Recon Progeroid Syndrome
Skeletal muscle atrophy, Long thumb, Arachnodactyly, Proximal placement of thumb OMIM:620370
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Tap... ORPHA:192
Mitochondrial Dna-Associated Leigh Syndrome
Abnormality of Krebs cycle metabolism, Failure to thrive, Ragged-red muscle fibers, Hepatic failure ORPHA:255210
7Q31 Microdeletion Syndrome
Prominent fingertip pads, Skeletal muscle atrophy, Torticollis, Clinodactyly of the 2nd finger ORPHA:251061
Poliomyelitis
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Uppe... ORPHA:2912
Pontocerebellar Hypoplasia, Type 7
Skeletal muscle atrophy, Cryptorchidism OMIM:614969
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Localized Scleroderma
Skeletal muscle atrophy, Flexion contracture, Myopathy, Sclerosis of finger phalanx, Hashimoto th... ORPHA:90289
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Elevated circulating creatine kinase concentration OMIM:253800
Neu-Laxova Syndrome
Skeletal muscle atrophy, Micromelia, Flexion contracture, Large hands, Hypogonadism, Muscular dys... ORPHA:2671
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Skeletal muscle atrophy, Retractile testis, Arthrogryposis multiplex congenita OMIM:617193
Congenital Myopathy 13
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cryptorchidism, Flexion contractur... OMIM:255995
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Autosomal Recessive Spastic Paraplegia Type 9B
Skeletal muscle atrophy ORPHA:447760
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Dpagt1-Cdg
Tremor, Inability to walk, Ataxia, Akinesia ORPHA:86309
Marden-Walker Syndrome
Skeletal muscle atrophy, Arachnodactyly, Camptodactyly of finger, Metatarsus adductus, Radioulnar... ORPHA:2461
Cystinosis, Nephropathic
Skeletal muscle atrophy, Diabetes mellitus, Failure to thrive in infancy, Metaphyseal widening, G... OMIM:219800
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Myopathy, Talipes equinovarus, Type 1 muscle fiber predominance OMIM:614557
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Skeletal muscle atrophy, Arthrogryposis multiplex congenita ORPHA:496641
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Hypoasparaginemia OMIM:615574
Japanese Encephalitis
Skeletal muscle atrophy, Facial palsy, Elbow flexion contracture, Talipes equinovarus, Inappropri... ORPHA:79139
Duane Retraction Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Absent radius, Preaxial hand polydactyl... ORPHA:233
Choreoacanthocytosis
Elevated circulating aspartate aminotransferase concentration, Peroneal muscle atrophy, Abnormal ... ORPHA:2388
Lysinuric Protein Intolerance
Skeletal muscle atrophy, Failure to thrive, Truncal obesity OMIM:222700
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Skeletal muscle atrophy, Overlapping toe, Small for gestational age, Tapered finger, Cryptorchidi... OMIM:309590
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy OMIM:146500
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Skeletal muscle atrophy, Swelling of proximal interphalangeal join... ORPHA:3260
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Tick-Borne Encephalitis
Elevated hepatic transaminase, Skeletal muscle atrophy, Facial palsy ORPHA:297
Cockayne Syndrome
Elevated hepatic transaminase, Skeletal muscle atrophy, Diabetes mellitus, Cachexia, Cryptorchidi... ORPHA:191
Nijmegen Breakage Syndrome
Skeletal muscle atrophy, Cachexia, Rhabdomyosarcoma ORPHA:647
African Trypanosomiasis
Akinesia, Tremor, Choreoathetosis, Gait disturbance, Difficulty walking ORPHA:3385
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Leprosy
Skeletal muscle atrophy, Autoamputation of digits, Testicular mass, Abnormality of the adrenal gl... ORPHA:548
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Diabetes mellitus, Hypergonadotropic hypogonadism, Meta... OMIM:259050
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Coxa valga, Osteolytic defects of the phalanges of the hand,... OMIM:182250
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Skeletal muscle atrophy, Flexion contracture ORPHA:90324
Marfan Syndrome
Skeletal muscle atrophy, Cachexia, Arachnodactyly, Slender build ORPHA:558
Stickler Syndrome
Skeletal muscle atrophy, Arachnodactyly, Cachexia, Genu valgum, Macroglossia, Abnormal diaphysis ... ORPHA:828
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Arachnodactyly, Talipes equinovarus, Myopathy ORPHA:536545
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Exaggerated startle response, Decreased serum iron, Inability to walk, Dystonia ORPHA:438213
Pierson Syndrome
Skeletal muscle atrophy OMIM:609049
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Pontocerebellar Hypoplasia Type 7
Skeletal muscle atrophy, Cryptorchidism ORPHA:284339
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for H6pd

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to H6pd.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Lack of adipose-specific hexose-6-phosphate dehydrogenase causes inactivation of adipose glucocorticoids and improves metabolic phenotype in mice. Clinical science (London, England : 1979) (November 2019) H6pdtm1c(EUCOMM)Wtsi H6pdtm1a(EUCOMM)Wtsi 31696216
Cellular and genetic models of H6PDH and 11β-HSD1 function in skeletal muscle. Cell biochemistry and function (July 2017) H6pdtm1a(EUCOMM)Wtsi PMC5601182

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
H6pdtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
H6pdtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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