Gene Summary

Name:
nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 3
Synonyms:
NFAT4,  D8Ertd281e,  NFATx

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Nfatc3tm1b(EUCOMM)Hmgu HOM   Early adult 0.000317
abnormal lens morphology Nfatc3tm1b(EUCOMM)Hmgu HET   Early adult 8.28×10-07
increased startle reflex Nfatc3tm1b(EUCOMM)Hmgu HET Early adult 3.10×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Colon  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 50% (1 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote 50% (1 of 2)
Urinary bladder  Wholemount images heterozygote 50% (1 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Chest bone N/A heterozygote 0.0% (0 of 2)
Cranium N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Main olfactory bulb N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote Not available
Vas deferens N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
cranium
diaphragm 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Adult LacZ

LacZ Images Wholemount

19 Images

Electrocardiogram (ECG)

Waveform Image

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Nfatc3 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 Nfatc3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Muscle fiber inclusion bodies, Muscle fiber polyglucosan inclusion bodi... OMIM:616199
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle fiber calsequestrin 1-containing inclusion bodies, Proximal muscle weakness, Muscle weakness OMIM:616231
Myopathy, Distal, 5
Muscle fiber splitting, Distal lower limb muscle weakness, Distal upper limb muscle weakness, Dis... OMIM:617030
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Scapuloperoneal weakness, Shoulder girdle muscle atrophy, Peroneal muscle atroph... OMIM:181400
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,... OMIM:618655
Inclusion Body Myositis
Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Proxim... ORPHA:611
Nonaka Myopathy
Distal lower limb muscle weakness, Deposits immunoreactive to beta-amyloid protein, Distal amyotr... OMIM:605820
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Neck muscle weakness, Scapular winging, Angulated muscle fibers, Weakness of facial musculature, ... OMIM:619477
Gne Myopathy
Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Abnor... ORPHA:602
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal lower limb amyotrophy, Spinal muscular atrophy, Proxim... OMIM:158600
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Rimmed vacuoles, Facial palsy, Scapular winging, EMG... OMIM:617158
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Calf m... ORPHA:178464
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles, Distal muscle weakness OMIM:604454
Alpha-B Crystallin-Related Late-Onset Myopathy
Accumulation of muscle fiber desmin, Neck muscle weakness, Muscle fiber inclusion bodies, Facial ... ORPHA:399058
Oculopharyngodistal Myopathy 2
External ophthalmoplegia, Bulbar palsy, Rimmed vacuoles, EMG: myopathic abnormalities, Distal mus... OMIM:618940
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Hip flexor weakness, Reduced maximal inspiratory pressure, Facial hypotonia, Autophagic vacuoles,... ORPHA:266
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Calf muscle hypertrophy, Muscle fiber necrosis, Increased variability in muscle fiber diameter, P... OMIM:618848
Inclusion Body Myositis
Distal muscle weakness, Rimmed vacuoles, Proximal muscle weakness, Inflammatory myopathy OMIM:147421
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Neck flexor weakness, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness,... ORPHA:457050
Oculopharyngeal Muscular Dystrophy 1
Neck muscle weakness, Ragged-red muscle fibers, Facial palsy, Distal muscle weakness, Limb muscle... OMIM:164300
Myopathy, Sarcoplasmic Body
Sarcoplasmic bodies, Weakness of the intrinsic hand muscles, Axial muscle weakness, Increased var... OMIM:620286
Mitochondrial Myopathy With Diabetes
Neck muscle weakness, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakn... OMIM:500002
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Congestive heart failure, Weak extraocular muscles, ... OMIM:618654
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance, Muscle weakness OMIM:616304
Moderate Multiminicore Disease With Hand Involvement
Distal upper limb muscle weakness, Generalized muscle weakness, Facial palsy, Axial muscle weakne... ORPHA:178145
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 Dominant 3
Proximal upper limb amyotrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Flexion limitatio... OMIM:609115
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Ragged-red muscle fibers, Facial palsy, Proximal muscle weakness in lower limbs, Neck flexor weak... OMIM:616209
Melkersson-Rosenthal Syndrome
Facial edema, Facial palsy OMIM:155900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Congestive heart failure, Ankle flexion contracture, Gowers sign, Calf muscle hypertrophy, Scapul... OMIM:608099
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormal lymph node morphology OMIM:136580
Myopathy, Myofibrillar, 3
Muscle fiber splitting, Distal amyotrophy, Cardiomyopathy, Muscle fiber cytoplasmatic inclusion b... OMIM:609200
Zebra Body Myopathy
Muscle fiber splitting, Neck muscle weakness, Torticollis, Gowers sign, Rimmed vacuoles, Autophag... ORPHA:97240
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular dystrophy, Calf muscle pseudohypertrophy, Gowers sign, Facial palsy, EMG: myopathic abno... OMIM:254110
Distal Myopathy, Welander Type
Distal upper limb muscle weakness, Distal upper limb amyotrophy, Rimmed vacuoles, EMG: myopathic ... ORPHA:603
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Generalized muscle weakness, Calf... OMIM:608358
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Proximal muscle weakness, Muscle fiber cytoplasmatic inclusion bodies, My... OMIM:609524
Cardiomyopathy, Dilated, 1X
Reduced left ventricular ejection fraction, Gowers sign, Calf muscle hypertrophy, Increased varia... OMIM:611615
Distal Nebulin Myopathy
Neck flexor weakness, Ankle flexion contracture, Progressive proximal muscle weakness, Cardiomyop... ORPHA:399103
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Rimmed vacuoles, Scapular winging, Abdominal wall muscle... OMIM:619733
Tibial Muscular Dystrophy
Distal upper limb muscle weakness, Ankle weakness, Rimmed vacuoles, EMG: myopathic abnormalities,... ORPHA:609
Myasthenic Syndrome, Congenital, 12
Neck muscle weakness, Fatigable weakness, Ragged-red muscle fibers, Gowers sign, Facial palsy, Pr... OMIM:610542
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal upper limb amyotrophy, Muscular dystrophy, Proximal muscle weakness in upper limbs, Dist... OMIM:601954
Myopathy, Distal, 4
Distal upper limb amyotrophy, Cardiomyopathy, Thenar muscle weakness, Skeletal muscle atrophy, Mu... OMIM:614065
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb mus... OMIM:620402
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Scapular winging, Distal muscle weak... OMIM:601846
Myopathy, Distal, 1
Distal lower limb muscle weakness, Neck muscle weakness, Ragged-red muscle fibers, Tibialis anter... OMIM:160500
Nemaline Myopathy 6
Facial palsy, Nemaline bodies, Limb muscle weakness, Skeletal muscle atrophy, Neck flexor weaknes... OMIM:609273
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Generalized muscle weakness, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities... OMIM:609283
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
Tubular Aggregate Myopathy
Fatigable weakness, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Increased vari... ORPHA:2593
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Rimmed vacuoles, Abdominal wall muscle weakness, Increased variabi... OMIM:615424
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular dystrophy, Rimmed vacuoles, Scapular winging, Autophagic vacuoles, EMG: myopathic abnorm... OMIM:608423
Distal Myopathy With Anterior Tibial Onset
Progressive proximal muscle weakness, Absent muscle fiber dysferlin, Weakness of the intrinsic ha... ORPHA:178400
Spinal Muscular Atrophy, Type Iv
Calf muscle hypertrophy, Rimmed vacuoles, Spinal muscular atrophy, Muscle fiber necrosis, Increas... OMIM:271150
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Generalized muscle weakness, Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, In... ORPHA:34516
Congenital Myopathy 14
Polyhydramnios, Neck muscle weakness, Knee flexion contracture, Generalized muscle weakness, Elbo... OMIM:618414
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Calf muscle hypertrophy, Cardiomyopathy, Wrist flexion contracture, Upper ... ORPHA:206549
Cataract 42
Cataract, Developmental cataract OMIM:115900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, Cardiomyopathy, EMG: myopathic abnormalities, Distal muscle weakness, Increas... OMIM:608807
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Ankle flexion contracture, Calf muscle hypertrophy, Rimmed vacuoles, Dist... OMIM:617760
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Ragged-red muscle fibers, Scapular winging, Progressive external ophthalmoplegia, Skeletal muscle... OMIM:617069
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Gowers sign, Wrist flexion contracture, Nemaline bodies, Limb-girdle muscle weakness, Increased v... OMIM:620386
Myopathy, Scapulohumeroperoneal
Progressive muscle weakness, Scapular winging, Facial palsy, Nemaline bodies, Increased variabili... OMIM:616852
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Upper limb muscle weakness, Fiber type grouping, Skeletal muscle atrophy, Muscle... OMIM:620452
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb amy... OMIM:620068
Myopathy, Myofibrillar, 2
Muscle fiber splitting, Muscular dystrophy, Neck muscle weakness, Late-onset proximal muscle weak... OMIM:608810
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Gowers sign, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle weakness, Pr... OMIM:612937
Spinal Muscular Atrophy, Infantile, James Type
Distal amyotrophy, Distal muscle weakness, Increased variability in muscle fiber diameter, Hip co... OMIM:619042
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Poor head control, Generalized muscle weakness, Bradycardia, Nemaline bodies, Increased variabili... OMIM:620265
Myopathy, Distal, Tateyama Type
Calf muscle hypertrophy, Hand muscle weakness, Increased variability in muscle fiber diameter, Ce... OMIM:614321
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Tibialis anterior muscle atrophy, Rimmed vacuoles, Cardiomyopathy, EMG: myopa... OMIM:600334
Distal Myopathy, Tateyama Type
Neck muscle weakness, Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of th... ORPHA:488650
Myopathy, Myofibrillar, 4
Muscle fiber splitting, Progressive muscle weakness, Progressive proximal muscle weakness, Autoph... OMIM:609452
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Sca... OMIM:300696
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Congenital Myopathy 6 With Ophthalmoplegia
Neck muscle weakness, Muscle fiber inclusion bodies, Generalized muscle weakness, Scapular wingin... OMIM:605637
Trichomegaly
Cataract OMIM:190330
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Muscle weakness, Central core regions in muscle fibers OMIM:159050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, N... OMIM:619566
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal mu... OMIM:254130
Muscle Filaminopathy
Muscle fiber splitting, Neck flexor weakness, Abnormality of masticatory muscle, Weakness of faci... ORPHA:171445
Muscular Dystrophy, Limb-Girdle, Type 1H
Muscular dystrophy, Calf muscle hypertrophy, Centrally nucleated skeletal muscle fibers, Shoulder... OMIM:613530
Congenital Myopathy 5 With Cardiomyopathy
Congestive heart failure, Severely reduced left ventricular ejection fraction, Generalized muscle... OMIM:611705
Nemaline Myopathy 10
Polyhydramnios, Generalized muscle weakness, Bulbar palsy, Facial palsy, Nemaline bodies, Congeni... OMIM:616165
Myofibrillar Myopathy 11
Type 1 muscle fiber predominance, Gowers sign, Calf muscle hypertrophy, EMG: myopathic abnormalit... OMIM:619178
Congenital Myopathy 23
Neck muscle weakness, Gowers sign, Facial diplegia, Scapular winging, Nemaline bodies, Limb muscl... OMIM:609285
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Muscle fiber splitting, Diaphragmatic weakness, Calf muscle hypertrophy, Rimmed vacuoles, Scapula... OMIM:603689
Myopathy, Centronuclear, 1
Proximal upper limb amyotrophy, External ophthalmoplegia, Proximal muscle weakness in upper limbs... OMIM:160150
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Scapular winging, Abdominal wall muscle weakness, Increased variability i... OMIM:618129
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Scapular winging, Cardiomyopathy, Increased variability in muscle fiber diame... OMIM:612999
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Muscle fiber splitting, Poor head control, Fatigable weakness, Facial palsy, Limb muscle weakness... OMIM:616313
Finnish Upper Limb-Onset Distal Myopathy
Amyotrophy of ankle musculature, Rimmed vacuoles, Progressive proximal muscle weakness, EMG: myop... ORPHA:399086
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
Distal Myotilinopathy
Distal amyotrophy, Progressive proximal muscle weakness, Cardiomyopathy, EMG: myopathic abnormali... ORPHA:98911
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscle fiber splitting, Muscular dystrophy, Bulbar palsy, Gowers sign, Rimmed vacuoles, Facial pa... OMIM:603511
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Myasthenic Syndrome, Congenital, 14
Knee flexion contracture, Fatigable weakness, Ragged-red muscle fibers, Gowers sign, Scapular win... OMIM:616228
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Distal muscle weakness, Increased variability in muscle fiber d... OMIM:620235
Myopathy, Distal, 3
Muscular dystrophy, Late-onset proximal muscle weakness, Distal amyotrophy, Rimmed vacuoles, Spli... OMIM:610099
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Rimmed vacuoles, Ophthalmoplegia, Abnormal muscle fiber morphology, Myo... ORPHA:270
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
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Laing Early-Onset Distal Myopathy
Neck muscle weakness, Progressive muscle weakness, Weakness of orbicularis oculi muscle, EMG: myo... ORPHA:59135
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers, Fatty replacement o... OMIM:618823
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy, Hypertrophic cardiomyopathy OMIM:609500
Angioedema, Hereditary, 4
Angioedema, Facial edema, Laryngeal edema OMIM:619360
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Neck muscle weakness, Bradycardia, Atrial fibrillation, Increased variability... OMIM:614302
Nemaline Myopathy 5C, Autosomal Dominant
Poor head control, Pelvic girdle muscle weakness, Gowers sign, Scapular winging, Nemaline bodies,... OMIM:620389
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Muscular dystrophy, Torticollis, Gowers sign, Increased variability in muscle fiber diameter, Ske... OMIM:613204
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... OMIM:253601
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Neck muscle weakness, Ragged-red muscle fibers, Facial palsy, ... OMIM:500009
Congenital Myopathy 24
Gowers sign, Facial palsy, Scapular winging, Nemaline bodies, Cardiomyopathy, Muscle weakness, Fi... OMIM:617336
Angioedema, Hereditary, 5
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619361
Glycogen Storage Disease Ixd
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Distal amyotr... OMIM:300559
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Hammertoe, Distal amyotrophy, Upper limb muscle weakness, Limb muscle weakness, Fiber type groupi... OMIM:608340
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Ankle flexion contracture, Premature ventricular contraction, Distal muscle w... OMIM:617072
Nemaline Myopathy 2
Sternocleidomastoid amyotrophy, Respiratory insufficiency due to muscle weakness, Muscle fiber sp... OMIM:256030
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Calf muscle hypertrophy, Type 2 m... OMIM:620375
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Increased intramuscul... ORPHA:276435
Muscular Dystrophy, Congenital, Lmna-Related
Proximal upper limb amyotrophy, Muscular dystrophy, Poor head control, Paroxysmal atrial fibrilla... OMIM:613205
Congenital Myopathy 18
Axial muscle weakness, Increased variability in muscle fiber diameter, Centrally nucleated skelet... OMIM:620246
Angioedema, Hereditary, 8
Angioedema, Facial edema, Edema of the dorsum of hands, Laryngeal edema OMIM:619367
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Calf muscle hypertrophy, Scapular winging, Lower limb mu... OMIM:616052
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle weakness OMIM:614807
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Muscle fiber hyaline bodies, Fourth heart sound, Right axis deviation, ... OMIM:255160
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Reduced muscle fiber merosin, Calf muscle hypertrophy, Proximal muscle weakne... ORPHA:34515
Dpm3-Cdg
Muscular dystrophy, Calf muscle hypertrophy, Rimmed vacuoles, Muscle weakness, Dilated cardiomyop... ORPHA:263494
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Distal muscle weakness, Progressive external ophthalmoplegia, Rhabdomyo... OMIM:617070
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Progressive proximal muscle weakness, Abnormal mitochondria in muscle t... ORPHA:663
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Neck muscle weakness, Generalized muscle weakness, Bulbar palsy, Gowers sign, Facial palsy, Limb ... OMIM:608930
Multiminicore Myopathy
Muscular dystrophy, Proximal muscle weakness in upper limbs, External ophthalmoplegia, Distal mus... ORPHA:598
Myopathy, Centronuclear, 2
Gowers sign, Facial palsy, Scapular winging, EMG: myopathic abnormalities, Distal muscle weakness... OMIM:255200
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Neck muscle weakness, Distal amyotrophy, Rimmed vacu... OMIM:619473
Congenital Myasthenic Syndromes With Glycosylation Defect
Poor head control, Fatigable weakness, Ragged-red muscle fibers, Gowers sign, Scapular winging, F... ORPHA:353327
Ullrich Congenital Muscular Dystrophy
Diaphragmatic weakness, Torticollis, Generalized muscle weakness, Long toe, Elbow flexion contrac... ORPHA:75840
Solar Urticaria
Angioedema, Syncope, Edema, Periorbital edema ORPHA:97230
Congenital Myopathy 10B, Mild Variant
Increased endomysial connective tissue, Neck flexor weakness, Generalized limb muscle atrophy, Ty... OMIM:620249
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Diaphragmatic weakness, Fatigable weakness, Generalized muscle weakness, Upper limb muscle weakne... OMIM:601462
Angioedema, Hereditary, 7
Angioedema, Facial edema OMIM:619366
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Hammertoe, Distal muscle weakness, Increased variability in muscle fiber diameter, Skeletal muscl... OMIM:620542
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Distal amyotrophy, Rimmed vacuoles, Scapular winging, Facial palsy, Progressive proximal muscle w... OMIM:167320
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Lower limb amyotrophy, Ragged-red muscle fibers, Rimmed vacuoles, Upper l... OMIM:616924
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs ORPHA:309169
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... OMIM:302045
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Syncope, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle muscle weak... OMIM:616812
Myopathy, Tubular Aggregate, 1
External ophthalmoplegia, Weakness of the intrinsic hand muscles, Increased variability in muscle... OMIM:160565
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Gowers sign, Calf muscle hypertrophy, Triceps weakness, Cardiomyopathy, Limb-... ORPHA:86812
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Adult-Onset Nemaline Myopathy
Type 1 muscle fiber predominance, Upper limb muscle weakness, Nemaline bodies, EMG: myopathic abn... ORPHA:171442
Oculopharyngodistal Myopathy 4
External ophthalmoplegia, Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnormalities, Dis... OMIM:619790
Congenital Myopathy 2A, Typical, Autosomal Dominant
Late-onset distal muscle weakness, Polyhydramnios, Generalized muscle weakness, Bulbar palsy, Fac... OMIM:161800
Congenital Myopathy 15
Polyhydramnios, Camptodactyly, Tricuspid regurgitation, Increased variability in muscle fiber dia... OMIM:620161
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy, Muscle weakness OMIM:545000
Fountain Syndrome
Short palm, Facial edema, Broad distal phalanx of finger OMIM:229120
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrop... OMIM:300816
Myasthenic Syndrome, Congenital, 5
Neck muscle weakness, Fatigable weakness, Generalized muscle weakness, Limb muscle weakness, Decr... OMIM:603034
Congenital Myopathy With Myasthenic-Like Onset
Type 1 muscle fiber predominance, Fatigable weakness, Scapular winging, EMG: myopathic abnormalit... ORPHA:424107
Congenital Myopathy 20
Short finger, Gowers sign, Scapular winging, Nemaline bodies, Congenital contracture, Increased v... OMIM:620310
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Neck muscle weakness, Axial muscle weakness, Increased variability in muscle ... OMIM:617066
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Polyhydramnios, Frontalis muscle weakness, Facial palsy, Type 1 fibers relatively smaller than ty... OMIM:300580
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Congenital Myopathy 3 With Rigid Spine
Muscular dystrophy, Poor head control, Type 1 and type 2 muscle fiber minicore regions, Generaliz... OMIM:602771
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Congestive heart failure, Polyhydramnios, Muscle weakness OMIM:616794
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Distal upper limb muscle weakness, Progressive proximal muscle weakness, Muscle fiber necrosis, I... OMIM:620138
Bethlem Muscular Dystrophy
Gowers sign, Progressive proximal muscle weakness, Wrist flexion contracture, Distal muscle weakn... ORPHA:610
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Skeletal muscle hypertrophy, Gowers sign, Calf muscle hypertrophy, Increased ... OMIM:613157
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscular dystrophy, Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, Flexion co... OMIM:607855
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Distal lower limb muscle weakness, Thenar muscle atrophy, Fiber type grouping, Interosseus muscle... OMIM:619903
Congenital Myopathy 1B, Autosomal Recessive
Muscular dystrophy, External ophthalmoplegia, Hydrops fetalis, Type 1 and type 2 muscle fiber min... OMIM:255320
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Gowers sign... OMIM:618138
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Type 1 muscle fiber predominance, Progressive muscle weakness, Shoulder flexion contracture, Nema... OMIM:605355
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Left ventricular systolic dysfunction, Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Go... ORPHA:353
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Gowers sign, Muscle fi... OMIM:253700
Myopathy, Centronuclear, 5
Axial muscle weakness, Centrally nucleated skeletal muscle fibers, Ophthalmoplegia, Hip contractu... OMIM:615959
Congenital Myopathy 4A, Autosomal Dominant
Generalized muscle weakness, Bulbar palsy, Facial palsy, Type 1 fibers relatively smaller than ty... OMIM:255310
Melkersson-Rosenthal Syndrome
Edema, Macroglossia, Facial palsy, Periorbital edema ORPHA:2483
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Amish Nemaline Myopathy
Progressive muscle weakness, Shoulder flexion contracture, EMG: myopathic abnormalities, Hip cont... ORPHA:98902
Postsynaptic Congenital Myasthenic Syndromes
Hip flexor weakness, Fatigable weakness of respiratory muscles, Ankle weakness, Abnormality of ma... ORPHA:98913
Congenital Multicore Myopathy With External Ophthalmoplegia
External ophthalmoplegia, Facial diplegia, Sternocleidomastoid amyotrophy, Hypertrophied muscle f... ORPHA:98905
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Gowers sign, Bilateral talipes equinovarus, Increased variability in muscle fiber diameter, Centr... OMIM:618484
Myopathy, X-Linked, With Excessive Autophagy
Gowers sign, Muscle fiber necrosis, Skeletal muscle autophagosome accumulation, Skeletal muscle a... OMIM:310440
Congenital Myopathy 10A, Severe Variant
Poor head control, Diaphragmatic weakness, Diaphragmatic paralysis, Facial palsy, EMG: myopathic ... OMIM:614399
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Cap Myopathy
Poor head control, Lower limb amyotrophy, Gowers sign, Sinus tachycardia, Facial palsy, Reduced s... ORPHA:171881
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
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
Cataract 47
Cataract, Microcornea OMIM:612018
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs ORPHA:1878
Scapuloperoneal Spinal Muscular Atrophy
Muscle fiber splitting, Diaphragmatic weakness, Peroneal muscle weakness, Torticollis, Amyoplasia... OMIM:181405
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract OMIM:116200
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Peroneal muscle weakness, Progressive muscle weakness, Skeletal muscle hypert... OMIM:611588
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Weakness of facial musculature, Inflammatory myopathy, Generalized mus... ORPHA:1145
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, Generalized lymphaden... OMIM:602450
Central Core Disease
Type 1 muscle fiber predominance, Pelvic girdle muscle weakness, Central core regions in muscle f... ORPHA:597
Classic Multiminicore Myopathy
Muscular dystrophy, Poor head control, Congestive heart failure, Axial muscle weakness, Generaliz... ORPHA:324604
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Amyotrophic Lateral Sclerosis 27, Juvenile
Progressive muscle weakness, Generalized muscle weakness, Gowers sign, Scapular winging, Intrinsi... OMIM:620285
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Scapular win... OMIM:613507
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Gowers sign, Facial palsy, Muscle weakness, Dilated cardiomyopathy, Increased... OMIM:602541
Meige Disease
Edema of the dorsum of hands, Predominantly lower limb lymphedema, Lymphedema, Pleural effusion, ... ORPHA:90186
Hypokalemic Periodic Paralysis
Fatigable weakness of respiratory muscles, Respiratory paralysis, Late-onset proximal muscle weak... ORPHA:681
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Periodic Fever, Familial, Autosomal Dominant
Myositis, Gastrointestinal hemorrhage, Periorbital edema OMIM:142680
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Palpebral edema, Abnormal capillary physiology, Tongue edema, Angioedema, Pharyngeal edema, Facia... ORPHA:100057
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Gowers sign, Facial diplegia, EMG: myopathic abnormalities, Limb muscle... OMIM:609560
American Trypanosomiasis
Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia, Periorbital edema, Edema ORPHA:3386
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
Angioedema, Hereditary, 1
Angioedema, Intestinal edema, Pharyngeal edema, Muscle weakness, Periorbital edema, Laryngeal edema OMIM:106100
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
Immune-Mediated Necrotizing Myopathy
Myocarditis, Congestive heart failure, Palpitations, Myositis, Scapular winging, EMG: myopathic a... ORPHA:206569
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Third degree atrioventricular block, Skeletal muscle atrophy, Progressi... ORPHA:480
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Myopathy, Myofibrillar, 8
Neck muscle weakness, Central core regions in muscle fibers, Joint contracture of the 5th finger,... OMIM:617258
Cataract 3, Multiple Types
Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract OMIM:601547
X-Linked Centronuclear Myopathy
Polyhydramnios, Fatigable weakness of bulbar muscles, Necklace skeletal muscle fibers, Type 1 fib... ORPHA:596
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Severely reduced left ventricular eject... OMIM:300257
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Proteasome-Associated Autoinflammatory Syndrome 2
Clinodactyly, Brachydactyly, Periorbital edema OMIM:618048
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Ragged-red muscle fibers, Muscle weakness, Increased muscle li... ORPHA:254864
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ragged-red muscle fibers, Rhabdomyolysis, Proximal muscle weakness, Weakness of facial musculature OMIM:618416
Adult-Onset Distal Myopathy Due To Vcp Mutation
Abnormality of the musculature of the lower limbs, Necrotizing myopathy, Rimmed vacuoles, Facial ... ORPHA:329478
Glycogen Storage Disease Due To Aldolase A Deficiency
EMG: myopathic abnormalities, Skeletal myopathy, Muscle fiber atrophy, Exercise-induced rhabdomyo... ORPHA:57
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
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Hypertension,... OMIM:540000
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers, Progressive muscle weakness OMIM:619024
Autosomal Recessive Centronuclear Myopathy
Progressive muscle weakness, Gowers sign, Facial diplegia, Facial palsy, Scapular winging, Genera... ORPHA:169186
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Gowers sign, Calf muscle hypertrophy, Cardiomyopathy, Increased variability in muscle fiber diame... ORPHA:119
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Type 2 muscle fiber predominance, Elbow flexion contracture, Z-band... OMIM:617114
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Trichinellosis
Facial palsy, Retinal hemorrhage, Ophthalmoplegia, Muscle weakness, Periorbital edema, Edema, Fac... ORPHA:863
Lymphatic Malformation 6
Polyhydramnios, Genital edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Generalized ed... OMIM:616843
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Spina bifida occulta, Lymphedema, Pleural effusion, Camptodactyly,... OMIM:235510
20Q11.2 Microduplication Syndrome
Palpebral edema, Clinodactyly of the 5th finger, Underdeveloped supraorbital ridges, Severe intra... ORPHA:363659
Proximal Myotonic Myopathy
Cataract ORPHA:606
Lacrimal Duct Defect
Periorbital edema OMIM:149700
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Increased variability in muscle fiber diameter, Centrally ... ORPHA:401768
Idiopathic Congenital Hypothyroidism
Bradycardia, Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Facial edema, Ma... ORPHA:95717
Amyotrophic Lateral Sclerosis 21
Distal lower limb muscle weakness, Bulbar palsy, Rimmed vacuoles, Hand muscle weakness, Distal mu... OMIM:606070
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Autosomal Recessive Progressive External Ophthalmoplegia
External ophthalmoplegia, Ragged-red muscle fibers, Scapular winging, Facial palsy, Cardiomyopath... ORPHA:254886
Lujo Hemorrhagic Fever
Myocarditis, Bradycardia, Hypotension, Generalized edema, Cerebral edema, Subconjunctival hemorrh... ORPHA:319213
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Progressive distal ... ORPHA:397744
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Axial muscle weakness, Flexion contracture, Minicore myopathy, Arthrogryposis multiplex congenita... ORPHA:178148
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... OMIM:225200
Neuraminidase Deficiency
Hydrops fetalis, Cardiomyopathy, Ascites, Skeletal muscle atrophy, Muscle weakness, Facial edema OMIM:256550
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Ragged-red muscle fibers, Hypertension, Hypertrophic cardiomyopathy, Pr... ORPHA:1349
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Hypertrophic cardiomyopathy, Op... OMIM:252011
Ullrich Congenital Muscular Dystrophy 1A
Muscular dystrophy, Reduced muscle collagen VI, Torticollis, Facial palsy, Muscle fiber necrosis,... OMIM:254090
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98855
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Generalized amyotrophy, Respiratory insuff... OMIM:613561
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Emery-Dreifuss Muscular Dystrophy
Respiratory insufficiency due to muscle weakness, Limb-girdle muscular dystrophy, Myopathy, Proxi... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Respiratory insufficiency due to muscle weakness, Limb-girdle muscular dystrophy, Myopathy, Proxi... ORPHA:98853
Vocal Cord And Pharyngeal Distal Myopathy
Ankle weakness, Bulbar palsy, Distal upper limb amyotrophy, Rimmed vacuoles, Distal muscle weakne... ORPHA:600
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, EMG: myopathic abnormalities, Abnormal muscle fiber mo... OMIM:123320
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Ullrich Congenital Muscular Dystrophy 2
Muscular dystrophy, Increased variability in muscle fiber diameter, Facial palsy, Flexion contrac... OMIM:616470
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Ragged-red muscle fibers, Right bundle branch block, Progressive external ophthalmoplegia, Axial ... OMIM:616479
Idiopathic Steroid-Resistant Nephrotic Syndrome
Edema, Pulmonary embolism, Periorbital edema ORPHA:567548
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Clubbing of fingers, Triceps weakness, Distal muscle weakness, Intrinsic hand muscle atrophy, Cen... OMIM:619574
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98863
Genetic Steroid-Resistant Nephrotic Syndrome
Edema, Periorbital edema ORPHA:656
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Progressive external ophthalmoplegia, Generalized amyotrophy, Respirato... ORPHA:352447
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Finger swelling, Flexion contracture, Periorbital edema OMIM:617591
Congenital Myopathy 22A, Classic
External ophthalmoplegia, Polyhydramnios, Generalized muscle weakness, Bradycardia, Ragged-red mu... OMIM:620351
Mitochondrial Dna Depletion Syndrome 11
Ragged-red muscle fibers, Facial palsy, Progressive external ophthalmoplegia, Generalized amyotro... OMIM:615084
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscular dystrophy, Muscle fiber atrophy, Proximal muscle weakness, Limb-girdle muscular dystroph... ORPHA:369840
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Waldenström Macroglobulinemia
Congestive heart failure, Gastrointestinal hemorrhage, Vasculitis, Pleural effusion, Retinal hemo... ORPHA:33226
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Ragged-red muscle fibers, EMG: myopathic abnormalities, Hypertrophic cardiomyopathy, Achilles ten... OMIM:615418
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cardiomyopathy, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Muscle fibe... OMIM:258450
Autosomal Dominant Centronuclear Myopathy
External ophthalmoplegia, Proximal muscle weakness in upper limbs, Polyhydramnios, Calf muscle hy... ORPHA:169189
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Congestive heart failure, Cardiomyopathy, Spinal muscular atrophy, Increased variability in muscl... OMIM:616866
Cutis Laxa, Autosomal Recessive, Type Ic
Sandal gap, Morgagni diaphragmatic hernia, Ascites, Umbilical hernia, Right ventricular hypertrop... OMIM:613177
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive muscle weakness, Bradycardia, Ragged-red muscle fibers, Cardiomyopathy, EMG: myopathi... OMIM:609286
Snakebite Envenomation
Respiratory paralysis, Tachycardia, Muscle fiber necrosis, Cerebral ischemia, Hypotension, Angioe... ORPHA:449285
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Multiple Sulfatase Deficiency
Broad thumb, Broad hallux, Periorbital edema OMIM:272200
Dermatomyositis
Myocarditis, Inflammatory myopathy, Myositis, Vasculitis, Sinus tachycardia, EMG: myopathic abnor... ORPHA:221
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Congestive heart failure, Rimmed vacuoles, Cardiomyopathy, EMG: myopathic abnormalities, Distal m... ORPHA:52430
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Abnormality of skeletal muscle fiber size, Generalized muscle weakness, Chylothorax, Nemaline bod... OMIM:620278
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle autophagosome accumu... OMIM:619518
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Cataract 41
Nuclear cataract OMIM:116400
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, External ophthalmoplegia, Distal amyotrophy, Rimmed vacuoles, Fac... OMIM:164310
Hyperekplexia 2
Astigmatism, Exaggerated startle response OMIM:614619
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscle fiber splitting, Muscular dystrophy, Increased variability in muscle fiber diameter, Mothe... OMIM:226670
Facioscapulohumeral Dystrophy
Palpebral edema, Skeletal muscle atrophy ORPHA:269
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Acute Monoblastic/Monocytic Leukemia
Periorbital edema ORPHA:514
Nasolacrimal Duct Cyst
Periorbital edema ORPHA:141083
Agammaglobulinemia, X-Linked
Prostatitis, Lymph node hypoplasia OMIM:300755
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Cataract 30, Multiple Types
Pulverulent cataract, Diffuse nuclear cataract, Posterior polar cataract OMIM:116300
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Juvenile Nasopharyngeal Angiofibroma
Facial edema, Epistaxis ORPHA:289596
Marinesco-Sjogren Syndrome
Progressive muscle weakness, Short metatarsal, Rimmed vacuoles, Short metacarpal, Centrally nucle... OMIM:248800
Greig Cephalopolysyndactyly Syndrome
1-3 toe syndactyly, Y-shaped metatarsals, Postaxial hand polydactyly, 3-4 finger syndactyly, Y-sh... OMIM:175700
Cataract 20, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract OMIM:116100
Neutral Lipid Storage Myopathy
Congestive heart failure, Generalized limb muscle atrophy, Neck muscle weakness, Gowers sign, Rim... ORPHA:98908
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Cataract 15, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Polymyositis
Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Vasc... ORPHA:732
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Myositis, Pericarditis, Vasculitis, Periorbital edema ORPHA:32960
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
External ophthalmoplegia, Generalized muscle weakness, Ragged-red muscle fibers, Scapular winging... OMIM:607459
Zygomycosis
Hematemesis, External ophthalmoplegia, Gastrointestinal hemorrhage, Myocarditis, Melena, Pleural ... ORPHA:73263
Familial Thyroid Dyshormonogenesis
Bradycardia, Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Facial edema, Ma... ORPHA:95716
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Progressive muscle weakness, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities... OMIM:157640
Congenital Myasthenic Syndrome
Poor head control, Distal lower limb muscle weakness, Polyhydramnios, Neck muscle weakness, Fatig... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Poor head control, Distal lower limb muscle weakness, Polyhydramnios, Neck muscle weakness, Fatig... ORPHA:98914
Lethal Congenital Contracture Syndrome 5
Polyhydramnios, Retinal hemorrhage, Congenital contracture, Centrally nucleated skeletal muscle f... OMIM:615368
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Angina pectoris, Vasculitis, Hypertension, Cerebral ischemia, Perica... ORPHA:900
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Lymphatic Malformation 7
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... OMIM:617300
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle fiber atrophy, Increased muscle lipid content, Muscle weakness, Rhabdomyolysis ORPHA:228302
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Facial palsy, Skeletal muscle atrophy, Abnormal muscle fiber morp... ORPHA:3068
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci... OMIM:265300
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Polyhydramnios, Short metacarpal, Short distal phalanx of finger, Facial edema, Arthrogryposis mu... ORPHA:86822
Angioedema, Hereditary, 3
Angioedema, Facial edema, Intestinal edema, Pharyngeal edema OMIM:610618
Gjc2-Related Late-Onset Primary Lymphedema
Edema of the dorsum of hands, Predominantly lower limb lymphedema, Genital edema, Facial edema, P... ORPHA:568051
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Cardiomyopathy, Progressive external ophthalmoplegia, Arrhythmia, Muscl... OMIM:530000
Lethal Congenital Contracture Syndrome 9
Short umbilical cord, Abnormality of the diaphragm, Polyhydramnios, Wrist flexion contracture, Co... OMIM:616503
Lipodystrophy, Congenital Generalized, Type 4
Muscular dystrophy, Prolonged QT interval, Generalized muscle weakness, Bradycardia, Skeletal mus... OMIM:613327
Lymphatic Malformation 5
Facial edema, Predominantly lower limb lymphedema OMIM:153200
Fountain Syndrome
Abnormal metacarpal morphology, Spina bifida occulta, Spina bifida, Large hands, Coarse metaphyse... ORPHA:3219
Williams Syndrome
Hypertension, Cerebral ischemia, Pulmonic stenosis, Umbilical hernia, Adducted thumb, Myopathy, I... ORPHA:904
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Respiratory paralysis, Late-onset proximal muscle weakness, Second degree ... ORPHA:79102
Autoinflammatory Disease, Systemic, With Vasculitis
Intrauterine growth retardation, Hydrops fetalis, Small vessel vasculitis, Periorbital edema OMIM:620376
Igg4-Related Submandibular Gland Disease
Facial edema, Xerostomia, Periorbital edema ORPHA:449432
Lassa Fever
Facial edema, Shock, Muscle weakness ORPHA:99824
Igg4-Related Ophthalmic Disease
Palpebral edema, Periorbital edema, Abnormality of the extraocular muscles ORPHA:449563
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cataract, Tremor, Exaggerated startle response OMIM:620327
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Reduced left ventricular ejection fraction, Myositis, Intercostal muscle weak... ORPHA:258
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Native American Myopathy
Abnormality of skeletal muscle fiber size, Camptodactyly, Congenital contracture, Muscle fiber at... ORPHA:168572
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Hypertension, Pleural effusion, Ascites, Edema, Anasarca, Facial edema, Pulmonar... ORPHA:567546
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... OMIM:608643
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Sunct Syndrome
Facial edema, Palpebral edema ORPHA:57145
Hereditary Angioedema Type 1
Edema of the dorsum of hands, Tongue edema, Hypotension, Intestinal edema, Pharyngeal edema, Faci... ORPHA:100050
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Juvenile Dermatomyositis
Calcinosis, Palpebral edema, Gastrointestinal hemorrhage, Myositis, Vasculitis, Angina pectoris, ... ORPHA:93672
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Low-output congestive heart failure, Rimmed vacuoles, Cardiomyopathy, Abnormalit... ORPHA:565612
Congenital Analbuminemia
Edema, Low pulse pressure, Facial edema, Oligohydramnios, Pedal edema ORPHA:86816
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia, Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Facial edema, Ma... ORPHA:90674
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Rothmund-Thomson Syndrome Type 1
Finger symphalangism, Abnormal ulnar metaphysis morphology, Calcinosis, Patellar hypoplasia, Meta... ORPHA:221008
Igg4-Related Dacryoadenitis And Sialadenitis
Palpebral edema, Generalized muscle weakness, Myositis, Abnormality of the extraocular muscles, F... ORPHA:79078
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Rothmund-Thomson Syndrome Type 2
Finger symphalangism, Abnormal ulnar metaphysis morphology, Calcinosis, Aplasia/hypoplasia involv... ORPHA:221016
Rothmund-Thomson Syndrome
Hypoplasia of the ulna, Calcinosis, Metaphyseal striations, Aplasia/Hypoplasia of the patella, Ap... ORPHA:2909
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Exaggerated startle response OMIM:253800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Facial edema OMIM:618398
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Short finger, Bradycardia, Delayed proximal femoral epiphyseal ossification, Hand polydactyly, Um... ORPHA:226307
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Tay-Sachs Disease
Tremor, Laryngeal dystonia, Dystonia, Exaggerated startle response ORPHA:845
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Sandhoff Disease
Exaggerated startle response OMIM:268800
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Combined Oxidative Phosphorylation Deficiency 58
Exaggerated startle response OMIM:620451
Acute Generalized Exanthematous Pustulosis
Facial edema ORPHA:293173
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Exaggerated startle response OMIM:620423
Chikungunya
Epistaxis, Raynaud phenomenon, Joint swelling, Facial edema, Pedal edema ORPHA:324625
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Exaggerated startle response ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

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 Nfatc3

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 Nfatc3.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Bactericidal/permeability-increasing protein instructs dendritic cells to elicit Th22 cell response. Cell reports (March 2024) Nfatc3tm1c(EUCOMM)Hmgu Nfatc3tm1a(EUCOMM)Hmgu 38457343
NFATc3 regulation of collagen V expression contributes to cellular immunity to collagen type V and hypoxic pulmonary hypertension. American journal of physiology. Lung cellular and molecular physiology (September 2020) Nfatc3tm1c(EUCOMM)Hmgu Nfatc3tm1a(EUCOMM)Hmgu 32997513
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature communications (October 2017) Nfatc3tm1b(EUCOMM)Hmgu PMC5638796

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Nfatc3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Nfatc3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Nfatc3tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Nfatc3tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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