Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
N-acetylneuraminate pyruvate lyase
Synonyms:
0610033B02Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Npl 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Exercise intolerance, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness,... ORPHA:457050
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,... OMIM:618655
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Calf m... ORPHA:178464
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Exercise intolerance, Ragged-red muscle fibers, Facial palsy, Decreased activity of mitochondrial... OMIM:616209
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Muscle fiber inclusion bodies, Muscle fiber polyglucosan inclusion bodi... OMIM:616199
Gne Myopathy
Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Abnor... ORPHA:602
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Rimmed vacuoles, Facial palsy, Scapular winging, EMG... OMIM:617158
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Hip flexor weakness, Reduced maximal inspiratory pressure, Facial hypotonia, Autophagic vacuoles,... ORPHA:266
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Neck muscle weakness, Scapular winging, Fatigue, Angulated muscle fibers, Weakness of facial musc... OMIM:619477
Rhabdomyolysis, Susceptibility To, 1
Exercise intolerance, Type 2 muscle fiber predominance, Distal muscle weakness, Increased variabi... OMIM:620235
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Calf muscle hypertrophy, Muscle fiber necrosis, Increased variability in muscle fiber diameter, P... OMIM:618848
Alpha-B Crystallin-Related Late-Onset Myopathy
Accumulation of muscle fiber desmin, Neck muscle weakness, Muscle fiber inclusion bodies, Facial ... ORPHA:399058
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular dystrophy, Calf muscle pseudohypertrophy, Exercise-induced myalgia, Gowers sign, Facial ... OMIM:254110
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Oculopharyngodistal Myopathy 2
External ophthalmoplegia, Bulbar palsy, Rimmed vacuoles, EMG: myopathic abnormalities, Distal mus... OMIM:618940
Mitochondrial Myopathy With Diabetes
Exercise intolerance, Neck muscle weakness, Ragged-red muscle fibers, Facial palsy, EMG: myopathi... OMIM:500002
Inclusion Body Myositis
Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Abnormal muscle fiber morpholog... ORPHA:611
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb mus... OMIM:620402
Myofibrillar Myopathy 11
Type 1 muscle fiber predominance, Gowers sign, Calf muscle hypertrophy, EMG: myopathic abnormalit... OMIM:619178
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Exercise-induced myalgia, Rimmed vacuoles, Abdominal wall muscle w... OMIM:615424
Tubular Aggregate Myopathy
Fatigable weakness, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Increased vari... ORPHA:2593
Myopathy, Sarcoplasmic Body
Sarcoplasmic bodies, Weakness of the intrinsic hand muscles, Axial muscle weakness, Increased var... OMIM:620286
Myopathy, Myofibrillar, 3
Muscle fiber splitting, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Myofibril... OMIM:609200
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Fatty replacement of skeletal muscle, Rimmed vacuoles, S... OMIM:619733
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Gowers sign, Wrist flexion contracture, Nemaline bodies, Limb-girdle muscle weakness, Increased v... OMIM:620386
Spinal Muscular Atrophy, Infantile, James Type
Distal amyotrophy, Distal muscle weakness, Increased variability in muscle fiber diameter, Hip co... OMIM:619042
Tibial Muscular Dystrophy
Distal upper limb muscle weakness, Ankle weakness, Rimmed vacuoles, EMG: myopathic abnormalities,... ORPHA:609
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Weak extraocular muscles, Abnormal Z disk morphology... OMIM:618654
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb mus... OMIM:301075
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Fatigue, Increased vari... OMIM:253601
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Scapular winging, Abdominal wall muscle weakness, Back pain, Increased va... OMIM:618129
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal upper limb amyotrophy, Muscular dystrophy, Proximal muscle weakness in upper limbs, Dist... OMIM:601954
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Myoglobinuria, Calf muscle hypertrophy, Wrist flexion contracture, Upper l... ORPHA:206549
Nonaka Myopathy
Distal lower limb muscle weakness, Deposits immunoreactive to beta-amyloid protein, Distal amyotr... OMIM:605820
Spinal Muscular Atrophy, Type Iv
Calf muscle hypertrophy, Rimmed vacuoles, Spinal muscular atrophy, Muscle fiber necrosis, Increas... OMIM:271150
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Ankle flexion contracture, Calf muscle hypertrophy, Rimmed vacuoles, Dist... OMIM:617760
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Ankle flexion contracture, Gowers sign, Calf muscle hypertrophy, Scapular winging, EMG: myopathic... OMIM:608099
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Poor head control, Increased variability in muscle fiber diameter, Respiratory insufficiency due ... OMIM:300717
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Exercise intolerance, Distal upper limb muscle weakness, Myoglobinuria, Exercise-induced myalgia,... OMIM:620138
Congenital Myopathy 6 With Ophthalmoplegia
Neck muscle weakness, Muscle fiber inclusion bodies, Generalized muscle weakness, Scapular wingin... OMIM:605637
Combined Oxidative Phosphorylation Deficiency 49
Exercise intolerance, Progressive muscle weakness, Ragged-red muscle fibers, Decreased activity o... OMIM:619024
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Ankle flexion contracture, Generalized muscle weakness, Central core regions in muscle fibers, Ne... OMIM:117000
Distal Myopathy, Tateyama Type
Neck muscle weakness, Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of th... ORPHA:488650
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Muscle fiber splitting, Diaphragmatic weakness, Calf muscle hypertrophy, Rimmed vacuoles, Scapula... OMIM:603689
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Congenital Myopathy 14
Neck muscle weakness, Knee flexion contracture, Generalized muscle weakness, Elbow flexion contra... OMIM:618414
Myopathy, Scapulohumeroperoneal
Progressive muscle weakness, Scapular winging, Facial palsy, Nemaline bodies, Increased variabili... OMIM:616852
Myopathy, Distal, 5
Muscle fiber splitting, Distal lower limb muscle weakness, Distal upper limb muscle weakness, Dis... OMIM:617030
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Sca... OMIM:300696
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Scapuloperoneal weakness, Shoulder girdle muscle atrophy, Peroneal muscle atroph... OMIM:181400
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Nemaline Myopathy 2
Sternocleidomastoid amyotrophy, Respiratory insufficiency due to muscle weakness, Muscle fiber sp... OMIM:256030
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, EMG: myopathic abnormalities, Distal muscle weakness, Increased variability i... OMIM:608807
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Skeletal muscle hypertrophy, Gowers sign, Calf muscle hypertrophy, Fatigue, I... OMIM:613157
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Gowers sign, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle weakness, Pr... OMIM:612937
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Muscle fiber splitting, Poor head control, Fatigable weakness, Facial palsy, Limb muscle weakness... OMIM:616313
Myopathy, Tubular Aggregate, 1
External ophthalmoplegia, Exercise-induced myalgia, Weakness of the intrinsic hand muscles, Incre... OMIM:160565
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Muscular dystrophy, Torticollis, Gowers sign, Increased variability in muscle fiber diameter, Ske... OMIM:613204
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Generalized muscle weakness, Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, In... ORPHA:34516
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, N... OMIM:619566
Glycogen Storage Disease Ixd
Exercise intolerance, Increased muscle glycogen content, Glycogen accumulation in muscle fiber ly... OMIM:300559
Cardiomyopathy, Dilated, 1X
Proximal muscle weakness, Increased variability in muscle fiber diameter, Calf muscle hypertrophy... OMIM:611615
Bethlem Myopathy 2
Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture, Muscle wea... OMIM:616471
Macrophagic Myofasciitis
Generalized muscle weakness, Myalgia, Arthralgia, Fatigue ORPHA:592
Inclusion Body Myositis
Distal muscle weakness, Rimmed vacuoles, Proximal muscle weakness, Inflammatory myopathy OMIM:147421
Adult-Onset Nemaline Myopathy
Type 1 muscle fiber predominance, Upper limb muscle weakness, Nemaline bodies, EMG: myopathic abn... ORPHA:171442
Myasthenic Syndrome, Congenital, 14
Knee flexion contracture, Fatigable weakness, Ragged-red muscle fibers, Gowers sign, Scapular win... OMIM:616228
Myopathy, Distal, Tateyama Type
Calf muscle hypertrophy, Hand muscle weakness, Increased variability in muscle fiber diameter, Ce... OMIM:614321
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Gowers sign, Progressive external ophthalmoplegia, Limb-girdle mu... ORPHA:352470
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb muscle weakness, Distal lower limb amyotrophy, Distal upper limb muscle weaknes... OMIM:500013
Zebra Body Myopathy
Muscle fiber splitting, Neck muscle weakness, Torticollis, Gowers sign, Rimmed vacuoles, Autophag... ORPHA:97240
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Congenital Myopathy 5 With Cardiomyopathy
Generalized muscle weakness, Mitochondrial depletion, Calf muscle hypertrophy, Increased variabil... OMIM:611705
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... OMIM:615703
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Respiratory insufficiency due to... OMIM:300718
Congenital Myopathy 18
Axial muscle weakness, Increased variability in muscle fiber diameter, Centrally nucleated skelet... OMIM:620246
Myopathy With Lactic Acidosis, Hereditary
Exercise intolerance, Abnormal iron deposition in mitochondria, Myoglobinuria, Decreased activity... OMIM:255125
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Upper limb muscle weakness, Urinary urgency, Abnormal mitochondrial mor... ORPHA:99013
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Upper limb muscle weakness, Fiber type grouping, Skeletal muscle atrophy, Muscle... OMIM:620452
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Gowers sign... OMIM:618138
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Abdominal pain, Calf muscle hypertrophy, Gowers sign, Triceps weakness, Limb-... ORPHA:86812
Congenital Myopathy 10B, Mild Variant
Increased endomysial connective tissue, Neck flexor weakness, Generalized limb muscle atrophy, Ty... OMIM:620249
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Generalized muscle weakness, Calf... OMIM:608358
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Distal muscle weakness, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, ... OMIM:620542
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Neck muscle weakness, Distal amyotrophy, Rimmed vacu... OMIM:619473
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Lower limb amyotrophy, Ragged-red muscle fibers, Rimmed vacuoles, Upper l... OMIM:616924
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Exercise intolerance, Generalized muscle weakness, Ragged-red muscle fibers, Facial palsy, EMG: m... OMIM:609283
Myopathy, Distal, 1
Distal lower limb muscle weakness, Neck muscle weakness, Ragged-red muscle fibers, Tibialis anter... OMIM:160500
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Scapular winging, Distal muscle weak... OMIM:601846
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular dystrophy, Rimmed vacuoles, Scapular winging, Autophagic vacuoles, EMG: myopathic abnorm... OMIM:608423
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Abdominal pain, Decreased activity of mitochondrial complex I, Fatigue,... OMIM:616794
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Gowers sign, Facial diplegia, Decreased activity of mitochondrial compl... OMIM:609560
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Neck muscle weakness, Axial muscle weakness, Increased variability in muscle ... OMIM:617066
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Scapular winging, Increased variability in muscle fiber diameter, Centrally n... OMIM:612999
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Poor head control, Generalized muscle weakness, Nemaline bodies, Increased variability in muscle ... OMIM:620265
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Neck muscle weakness, Increased variability in muscle fiber diameter, Proxima... OMIM:614302
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Progressive distal ... ORPHA:397744
Myasthenic Syndrome, Congenital, 12
Neck muscle weakness, Fatigable weakness, Ragged-red muscle fibers, Gowers sign, Facial palsy, Pr... OMIM:610542
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Ankle flexion contracture, Distal muscle weakness, Increased variability in m... OMIM:617072
Myopathy, Myofibrillar, 7
Urinary incontinence, Shoulder flexion contracture, Type 2 muscle fiber predominance, Elbow flexi... OMIM:617114
Congenital Myopathy 3 With Rigid Spine
Muscular dystrophy, Poor head control, Type 1 and type 2 muscle fiber minicore regions, Generaliz... OMIM:602771
Congenital Myopathy 1B, Autosomal Recessive
Muscular dystrophy, External ophthalmoplegia, Type 1 and type 2 muscle fiber minicore regions, Ge... OMIM:255320
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex I, Abnormal mitochondrial morphology, Decreased activ... OMIM:618378
Myopathy, Myofibrillar, 2
Muscle fiber splitting, Muscular dystrophy, Neck muscle weakness, Late-onset proximal muscle weak... OMIM:608810
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Gowers sign, Muscle fi... OMIM:253700
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Congenital Multicore Myopathy With External Ophthalmoplegia
External ophthalmoplegia, Facial diplegia, Sternocleidomastoid amyotrophy, Hypertrophied muscle f... ORPHA:98905
Childhood-Onset Nemaline Myopathy
Exercise intolerance, Generalized limb muscle atrophy, Neck muscle weakness, Fatigable weakness o... ORPHA:171439
Congenital Myopathy 10A, Severe Variant
Poor head control, Diaphragmatic weakness, Diaphragmatic paralysis, Facial palsy, EMG: myopathic ... OMIM:614399
Oculopharyngodistal Myopathy 4
External ophthalmoplegia, Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnormalities, Dis... OMIM:619790
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Neck muscle weakness, Decreased circulating carnitine concentr... OMIM:500009
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscle fiber splitting, Muscular dystrophy, Bulbar palsy, Gowers sign, Rimmed vacuoles, Facial pa... OMIM:603511
Ullrich Congenital Muscular Dystrophy
Diaphragmatic weakness, Torticollis, Generalized muscle weakness, Elbow flexion contracture, EMG:... ORPHA:75840
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs ORPHA:1878
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Gowers sign, Facial palsy, Muscle weakness, Mitochondrial hypertrophy, Increa... OMIM:602541
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Laing Early-Onset Distal Myopathy
Neck muscle weakness, Progressive muscle weakness, Weakness of orbicularis oculi muscle, EMG: myo... ORPHA:59135
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Progressive proximal muscle weakness, Abnormal mitochondria in muscle t... ORPHA:663
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Exercise intolerance, Muscular dystrophy, Muscle fiber necrosis, Limb muscle weakness, Limb-girdl... OMIM:616812
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Gowers sign, Scapular winging, Upper limb... ORPHA:353
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Exercise-induced myalgia, Calf mu... OMIM:620375
Mitochondrial Complex I Deficiency, Nuclear Type 29
Exercise intolerance, Exercise-induced myalgia, Decreased activity of mitochondrial complex I, Fa... OMIM:618250
Congenital Myopathy 4A, Autosomal Dominant
Generalized muscle weakness, Bulbar palsy, Facial palsy, Type 1 fibers relatively smaller than ty... OMIM:255310
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Generalized muscle weakness ORPHA:238329
Myopathy, Centronuclear, 1
Proximal upper limb amyotrophy, External ophthalmoplegia, Proximal muscle weakness in upper limbs... OMIM:160150
Congenital Myopathy 20
Gowers sign, Scapular winging, Nemaline bodies, Congenital contracture, Increased variability in ... OMIM:620310
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Limb muscle weakness, Increased variability in muscle fi... OMIM:613954
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria, Calf muscle hypertrophy, Gowers sign, Increased variability in muscle fiber diamet... ORPHA:119
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Decreased activity of mitochondrial complex I, De... OMIM:614096
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Res... OMIM:300580
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Exercise intolerance, Increased muscle glycogen content, Glycogen accumulation in muscle fiber ly... ORPHA:368
Muscular Dystrophy, Limb-Girdle, Type 1H
Muscular dystrophy, Calf muscle hypertrophy, Centrally nucleated skeletal muscle fibers, Shoulder... OMIM:613530
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Rhabdomyolysis, Muscle weakness, Myalgia, Renal insufficiency OMIM:255110
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Exercise intolerance, Decreased mitochondrial number, Ragged-red muscle fibers, Nephrolithiasis, ... ORPHA:352447
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Gowers sign, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle ... OMIM:618484
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Increased C-peptide level, Hypercholesterolemia OMIM:620211
Congenital Myopathy 15
Camptodactyly, Increased variability in muscle fiber diameter, Muscle weakness, Weakness of facia... OMIM:620161
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Lacticaciduria OMIM:619063
Myopathy, Myofibrillar, 4
Muscle fiber splitting, Progressive muscle weakness, Progressive proximal muscle weakness, Autoph... OMIM:609452
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Muscle weakness, Central core regions in muscle fibers OMIM:159050
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Stage 5 chronic kidney disease, Exercise intolerance, Renal tubular epithelial necrosis, Myoglobi... ORPHA:228302
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Poor head control, Neck muscle weakness, EMG: myopathic abnormalities, Limb muscle weakness, Incr... ORPHA:486815
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Rimmed vacuoles, Ophthalmoplegia, Abnormal muscle fiber morphology, Myo... ORPHA:270
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Frontotemporal Dementia With Motor Neuron Disease
Bulbar palsy, Abnormal mitochondrial morphology, Distal muscle weakness, Generalized amyotrophy, ... ORPHA:275872
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Progressive muscle weakness, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Skeleta... OMIM:619518
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Multiminicore Myopathy
Muscular dystrophy, Proximal muscle weakness in upper limbs, External ophthalmoplegia, Distal mus... ORPHA:598
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Decreased activity of mitochondrial complex IV, I... OMIM:619065
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Bethlem Muscular Dystrophy
Gowers sign, Progressive proximal muscle weakness, Wrist flexion contracture, Distal muscle weakn... ORPHA:610
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy OMIM:618992
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Increased variability in muscle fiber diameter, Centrally ... ORPHA:401768
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Increased LDL cholesterol concentration, Hype... OMIM:616828
Congenital Myopathy 22A, Classic
External ophthalmoplegia, Generalized muscle weakness, Ragged-red muscle fibers, Gowers sign, Dec... OMIM:620351
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number, EMG: myopathic abnormalities, Upper limb muscle weakness, Decreas... ORPHA:263297
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia OMIM:612526
Myopathic Ehlers-Danlos Syndrome
Exercise intolerance, Ankle flexion contracture, Weakness of facial musculature, Foot joint contr... ORPHA:536516
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Becker Muscular Dystrophy
Exercise intolerance, Myoglobinuria, Fatigue, Skeletal muscle atrophy, Muscle weakness, Myalgia, ... ORPHA:98895
Typical Nemaline Myopathy
Fatigable weakness of respiratory muscles, Facial diplegia, Facial palsy, Nemaline bodies, Arthro... ORPHA:171436
X-Linked Centronuclear Myopathy
Fatigable weakness of bulbar muscles, Necklace skeletal muscle fibers, Type 1 fibers relatively s... ORPHA:596
Amyotrophic Lateral Sclerosis 21
Distal lower limb muscle weakness, Bulbar palsy, Rimmed vacuoles, Hand muscle weakness, Distal mu... OMIM:606070
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Cap Myopathy
Poor head control, Lower limb amyotrophy, Gowers sign, Facial palsy, Increased variability in mus... ORPHA:171881
Glycogen Storage Disease Vii
Exercise intolerance, Increased muscle glycogen content, Exercise-induced myoglobinuria, Hematuri... OMIM:232800
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hip pain, Rimmed vacuoles, EMG: myopathic abnormalities, Urinary bladder sphincter dysfunction, D... ORPHA:52430
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Spinal muscular atrophy, Increased variability in muscle fiber diameter, Flexion contracture, Ske... OMIM:616867
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Increased mitochondrial number, Methylmalonic acid... OMIM:615578
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Respiratory insufficiency due to muscle weakness,... OMIM:616816
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria, EMG: myopathic abnormalities, Skeletal myopathy, Muscle fiber... ORPHA:57
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscle fiber splitting, Muscular dystrophy, Increased variability in muscle fiber diameter, Mothe... OMIM:226670
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Exercise intolerance, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Muscl... OMIM:258450
Myasthenic Syndrome, Congenital, 19
Exercise intolerance, Poor head control, Bulbar palsy, Facial palsy, Distal muscle weakness, Axia... OMIM:616720
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Exercise intolerance, Ragged-red muscle fibers, EMG: myopathic abnormalities, Fatigue, Achilles t... OMIM:615418
Ullrich Congenital Muscular Dystrophy 1A
Muscular dystrophy, Reduced muscle collagen VI, Torticollis, Facial palsy, Muscle fiber necrosis,... OMIM:254090
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Macroglossia, Progressive muscle weakness, Skelet... OMIM:151800
Barth Syndrome
Exercise intolerance, 3-Methylglutaconic aciduria, Gowers sign, Fatigue, Abnormal mitochondrial m... OMIM:302060
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Poor head control OMIM:613752
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Mitochondrial swelling, Poor head control, Lactic... OMIM:615595
Ullrich Congenital Muscular Dystrophy 2
Muscular dystrophy, Increased variability in muscle fiber diameter, Facial palsy, Flexion contrac... OMIM:616470
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, EMG: myopathic abnormalities, Fatigue, Abnormal muscle... OMIM:123320
Liddle Syndrome
Muscle weakness, Nephropathy, Fatigue, Renal insufficiency ORPHA:526
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myositis, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Skel... OMIM:615422
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology OMIM:300438
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Weakness of facial musculature, Inflammatory myopathy, Generalized mus... ORPHA:1145
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Ophthalmoplegia, Myopathy OMIM:125250
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Exercise intolerance, Progressive muscle weakness, Ragged-red muscle fibers, Facial palsy, EMG: m... OMIM:157640
Hypokalemic Periodic Paralysis
Fatigable weakness of respiratory muscles, Respiratory paralysis, Late-onset proximal muscle weak... ORPHA:681
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Oxoglutaric Aciduria
Abnormal urine alpha-ketoglutarate concentration, Skeletal muscle atrophy, Abnormality of Krebs c... ORPHA:31
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Exercise intolerance, External ophthalmoplegia, Generalized muscle weakness, Ragged-red muscle fi... OMIM:607459
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Abnormality of skeletal muscle fiber size, Generalized muscle weakness, Nemaline bodies, Joint co... OMIM:620278
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy... OMIM:617228
Hyperlipoproteinemia, Type I
Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent... OMIM:238600
Myoglobinuria, Recurrent
Ragged-red muscle fibers, Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Increased variability in muscle fiber diameter, Muscle fiber atrophy, Ge... OMIM:616866
Oculopharyngodistal Myopathy 1
External ophthalmoplegia, Distal amyotrophy, Rimmed vacuoles, Facial palsy, Autophagic vacuoles, ... OMIM:164310
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia ORPHA:79237
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Laron Syndrome
Hypercholesterolemia ORPHA:633
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Arthrogryposis multiplex congenita, Hypospadias, ... OMIM:619334
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
3-Methylglutaconic aciduria, Abnormal renal collecting system morphology, Hypospadias, Ragged-red... ORPHA:17
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, External ophthalmoplegia, Flexion contracture OMIM:619026
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... OMIM:619662
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter OMIM:617915
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... ORPHA:412
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased LDL cholest... OMIM:278000
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape, Macroglossia, Abnormal urinary odor ORPHA:412217
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter OMIM:617235
Lipodystrophy, Congenital Generalized, Type 4
Exercise intolerance, Muscular dystrophy, Generalized muscle weakness, Skeletal muscle hypertroph... OMIM:613327
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
Familial Partial Lipodystrophy, Dunnigan Type
Glomerulopathy, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Myalgia, ... ORPHA:2348
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Primary Hyperoxaluria Type 3
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Pollakisuria, Dysuria, Pain, Abnormali... ORPHA:93600
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, Gowers sign, EMG: myopathic abnormalities, Increased variabili... ORPHA:502423
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Sitosterolemia 1
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Hyperapobe... OMIM:210250
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Knee flexion contracture, Elbow flexion contracture, Increased variabi... OMIM:619461
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
External ophthalmoplegia, Abnormal mitochondrial shape, Muscle weakness ORPHA:485421
Pparg-Related Familial Partial Lipodystrophy
Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Calf muscle pseudohypertr... ORPHA:79083
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance, Neurogenic bladder OMIM:619173
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Decreased activity of mitochondrial complex IV, M... OMIM:604377
Fumarase Deficiency
Decreased fumarate hydratase activity, Bilateral fetal pyelectasis, Elevated urine fumaric acid l... OMIM:606812
Optic Atrophy 11
Increased variability in muscle fiber diameter, Fiber type grouping, Facial diplegia OMIM:617302
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Proximal muscle weaknes... ORPHA:70595
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Native American Myopathy
Abnormality of skeletal muscle fiber size, Camptodactyly, Congenital contracture, Muscle fiber at... ORPHA:168572
Glycogen Storage Disease Xii
Muscle fiber splitting, Increased variability in muscle fiber diameter, Hemoglobinuria, Muscle we... OMIM:611881
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Myalgia, Distal amyotrophy, Muscle weakness OMIM:617675
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:79240
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Congenital Disorder Of Glycosylation, Type Iiaa
Hyperammonemia, Hypercholesterolemia OMIM:620454
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Generalized muscle weakness OMIM:619424
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:264580
Lysinuric Protein Intolerance
Hypertriglyceridemia, Hyperglycinemia, Steatorrhea, Decreased HDL cholesterol concentration, Elev... ORPHA:470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Muscular dystrophy, Increased variability in muscle fiber diameter, Poor head control OMIM:616538
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Conjugated hyperbilirubinemia... ORPHA:186
Prader-Willi Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:176270
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Hypercholesterolemia, Neonatal hyperbilirubinemia ORPHA:90674
Lethal Congenital Contracture Syndrome 9
Abnormality of the diaphragm, Wrist flexion contracture, Congenital contracture, Arthrogryposis m... OMIM:616503
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch... ORPHA:90041
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Hyponatremia, Hypercholesterolemia ORPHA:275761
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Hyperuricemia, Hyperlipidemia, Hypercholesterolemia ORPHA:79259
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Immunodeficiency 47
Hypercholesterolemia, Decreased circulating copper concentration OMIM:300972
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Muscular dystrophy, Skeletal muscle hypertrophy, Congenital contracture, Increased variability in... OMIM:613150
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Hypophosphatemia, Hyperaldosteronism, Hypercholesterolemia, Hypoammonemia ORPHA:534
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Macroglossia, Torticollis OMIM:617022
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Elevated amniotic fluid alpha-fetoprotein, Hypercholesterolemia, Elevated circula... OMIM:309000
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circulating creatini... OMIM:619534
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665

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 Npl

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 Npl.

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

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Nploc4tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Nploc4tm1a(EUCOMM)Wtsi PMC6459510

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Npltm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Npltm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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