Gene Summary

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

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 1.27×10-06
increased startle reflex Nfatc3tm1b(EUCOMM)Hmgu HET Early adult 3.10×10-05

Download data as:  TSV  XLS

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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 0.73% (4 of 545)
aorta 0.18% (1 of 541)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.92% (5 of 546)
brainstem 0.19% (1 of 540)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 533)
cecum 4.87% (17 of 349)
cerebellum 0.55% (3 of 548)
cerebral cortex 0.37% (2 of 542)
chest bone Unavailable
colon 15.5% (20 of 129)
cranium
diaphragm 0.0%
epididymis 13.08% (17 of 130)
esophagus 1.3% (5 of 384)
eye 0.0%
gall bladder 0.0%
harderian gland 0.0%
heart 0.37% (2 of 547)
hindlimb 0.0%
hippocampus 0.37% (2 of 540)
hypothalamus 0.37% (2 of 534)
kidney 4.63% (25 of 540)
large intestine 5.56% (30 of 540)
liver 0.0%
lower urinary tract 0.18% (1 of 546)
lung 0.18% (1 of 546)
lymph node 0.18% (1 of 547)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node 0.34% (1 of 292)
olfactory lobe 0.36% (2 of 555)
oral epithelium 0.0%
ovary 0.19% (1 of 537)
oviduct 0.0%
pancreas 0.93% (5 of 540)
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.37% (2 of 542)
peyers patch 0.0%
pituitary gland 0.18% (1 of 560)
prostate gland 2.03% (11 of 541)
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.19% (1 of 539)
small intestine 5.04% (27 of 536)
spinal cord 0.57% (3 of 529)
spleen 0.56% (3 of 539)
stomach 3.42% (19 of 555)
stomach pyloric region 0.0%
striatum 0.37% (2 of 547)
sublingual gland 0.0%
submandibular gland 1.5% (2 of 133)
testis 1.1% (6 of 545)
thymus 0.18% (1 of 546)
thyroid gland 2.93% (16 of 546)
tongue 2.38% (3 of 126)
trachea 0.54% (3 of 557)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.36% (2 of 554)
vagina 0.0%
vas deferens 4.18% (15 of 359)
vascular system 0.0%
vesicular gland 0.0%
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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

10 Images

Adult LacZ

LacZ Images Wholemount

19 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
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Distal muscle weakness,... 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 18
Cataract OMIM:610019
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
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, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Distal muscle weakness, Rimmed vac... OMIM:618655
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... ORPHA:611
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Weakness of facial musculature, Proximal muscle weakness, Shoulder girdl... OMIM:619477
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Distal muscle weakness, Distal amyotrophy, Deposit... OMIM:605820
Gne Myopathy
EMG: myopathic abnormalities, Scapular winging, Increased variability in muscle fiber diameter, R... ORPHA:602
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Scap... OMIM:617158
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... OMIM:158600
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Distal amyotrophy, Cardiomyopathy, Proximal muscle weakness, Achilles tend... OMIM:609200
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, EMG: myopathic abnormalities, Weakness of facial musculat... OMIM:618940
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, Progressive proximal muscle weakness, EMG: myopathic abnormalities, Increased va... ORPHA:399058
Welander Distal Myopathy
Distal muscle weakness, Rimmed vacuoles, Distal amyotrophy OMIM:604454
Inclusion Body Myositis
Distal muscle weakness, Rimmed vacuoles, Inflammatory myopathy, Proximal muscle weakness OMIM:147421
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy OMIM:617030
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... OMIM:618848
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fibers, Lim... OMIM:500002
Myopathy, Myofibrillar, 2
Late-onset proximal muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdl... OMIM:608810
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... ORPHA:178464
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... OMIM:609115
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased endomysial connective tissue, EMG: myopathic abnormalities, Distal muscle weakness, Inc... ORPHA:266
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Neck flexor weakness, In... ORPHA:457050
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, EMG: myopathic abnormalities, R... ORPHA:603
Myopathy, Distal, 7, Adult-Onset, X-Linked
Respiratory insufficiency due to muscle weakness, Distal upper limb muscle weakness, Proximal mus... OMIM:301075
Zebra Body Myopathy
Torticollis, Muscle fiber necrosis, Nemaline bodies, Gowers sign, EMG: myopathic abnormalities, R... ORPHA:97240
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Proxi... OMIM:609524
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, Type 1 muscle fiber predominanc... ORPHA:178145
Melkersson-Rosenthal Syndrome
Facial palsy, Facial edema OMIM:155900
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy, Neck flexor weak... OMIM:616209
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Gowers sign, Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakne... OMIM:254110
Distal Nebulin Myopathy
Nemaline bodies, Progressive proximal muscle weakness, EMG: myopathic abnormalities, Weakness of ... ORPHA:399103
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormality of the lymph nodes OMIM:136580
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Cardiomyopathy, Dilated, 1X
Gowers sign, Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Increased l... OMIM:611615
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Progressive external ophthalmoplegia, Ragged-red musc... OMIM:609283
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Tibial Muscular Dystrophy
Distal upper limb muscle weakness, Proximal muscle weakness in lower limbs, EMG: myopathic abnorm... ORPHA:609
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... OMIM:608358
Myasthenic Syndrome, Congenital, 13
Fatigable weakness, Muscle fiber tubular inclusions, Proximal muscle weakness OMIM:614750
Nemaline Myopathy 6
Nemaline bodies, Limb muscle weakness, Myopathy, Neck flexor weakness OMIM:609273
Myopathy, Distal, 4
Proximal muscle weakness, Abnormality of the calf musculature, Muscle weakness, Distal upper limb... OMIM:614065
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... OMIM:608423
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Proximal muscle weakness, Toe extensor amyotrophy, Rimmed vacuol... OMIM:160500
Vacuolar Neuromyopathy
Distal muscle weakness, Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Neck flex... OMIM:601846
Muscular Dystrophy, Congenital, Merosin-Positive
Respiratory insufficiency due to muscle weakness, Flexion contracture, Increased variability in m... OMIM:609456
Central Core Disease Of Muscle
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... OMIM:117000
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Finger flexor weakness, Progressive proximal muscle weakness, Limb... ORPHA:178400
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... ORPHA:2593
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... OMIM:615424
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... ORPHA:34516
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Centrally nucleated skeletal muscle fibers, Scapular winging, Hand muscle atroph... OMIM:616852
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... OMIM:271150
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Gowers sign, Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopa... OMIM:612937
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber diameter,... OMIM:300717
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Abdominal wall muscle weakness, Muscle fiber splitting, Proximal muscle weakness, Scapular wingin... OMIM:618129
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Muscle weakness, Central core regions in muscle fibers OMIM:159050
Myopathy, Proximal, With Ophthalmoplegia
Distal muscle weakness, Muscle fiber inclusion bodies, Proximal muscle weakness, Neck muscle weak... OMIM:605637
Myopathy, Myofibrillar, 4
Progressive proximal muscle weakness, EMG: myopathic abnormalities, Myofibrillar myopathy, Progre... OMIM:609452
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Palpitations, Increased variability ... ORPHA:488650
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Proximal muscle weakness, Skeletal muscle hypertrophy, EMG: myopathic abn... OMIM:300696
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Muscle weakness,... OMIM:617072
Miyoshi Muscular Dystrophy 1
Distal muscle weakness, Muscular dystrophy, Lower limb muscle weakness, Distal amyotrophy, Deposi... OMIM:254130
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal muscle weakness, Increased variability in muscle fiber diameter, Type 1 m... OMIM:619042
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Distal upper limb muscle weakness, Skeletal muscle hypertrophy, P... OMIM:619566
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Muscle weakness, Pro... OMIM:613530
Nemaline Myopathy 1
Facial diplegia, Nemaline bodies, Proximal muscle weakness, Flexion contracture, EMG: myopathic a... OMIM:609284
Myopathy, Centronuclear, 1
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Type 1 muscle fib... OMIM:160150
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Distal muscle weakness, Calf muscle hypertrophy, Rimmed vacuoles, Proximal muscle weakness, Skele... OMIM:617760
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Gowers sign, Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakn... OMIM:603511
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Distal Myotilinopathy
Multiple joint contractures, Progressive proximal muscle weakness, EMG: myopathic abnormalities, ... ORPHA:98911
Nemaline Myopathy 4
Facial diplegia, Nemaline bodies, Gowers sign, Flexion contracture, Type 1 muscle fiber predomina... OMIM:609285
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Ophthalmop... ORPHA:270
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Diaphragmatic weakness, Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variabilit... OMIM:603689
Nemaline Myopathy 7
Nemaline bodies, Gowers sign, Weakness of facial musculature, Minicore myopathy, Fatty replacemen... OMIM:610687
Trichomegaly
Cataract OMIM:190330
Finnish Upper Limb-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, Pr... ORPHA:399086
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Hypertrophic cardiomyopathy, Myopathy OMIM:609500
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fibe... OMIM:300718
Multiminicore Myopathy
Respiratory insufficiency due to muscle weakness, Abnormal muscle fiber morphology, Proximal musc... ORPHA:598
Nemaline Myopathy 2
Weakness of facial musculature, Increased variability in muscle fiber diameter, Neck flexor weakn... OMIM:256030
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Reduced muscle fiber alpha dystroglycan, Gowers sign, Calf muscle hypertrophy, Calf muscle pseudo... ORPHA:280333
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... OMIM:253601
Myopathy, Distal, 3
Joint contracture of the hand, Late-onset proximal muscle weakness, EMG: myopathic abnormalities,... OMIM:610099
Glycogen Storage Disease Ixd
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... OMIM:300559
Myofibrillar Myopathy 11
Gowers sign, Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased v... OMIM:619178
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Myopathy, Congenital Proximal, With Minicore Lesions
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... OMIM:618823
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... ORPHA:59135
Nemaline Myopathy 10
Bulbar palsy, Flexion contracture, Polyhydramnios, Muscle weakness, Arthrogryposis multiplex cong... OMIM:616165
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Angioedema, Hereditary, 4
Angioedema, Laryngeal edema, Facial edema OMIM:619360
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... OMIM:613204
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Arrhythmia, Dilated cardiomyopathy, Generalized mus... OMIM:611705
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Dila... ORPHA:263494
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... ORPHA:276435
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... ORPHA:34515
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... OMIM:500009
Myasthenic Syndrome, Congenital, 14
Gowers sign, Flexion contracture, Limb-girdle muscle weakness, Fatigable weakness, Ragged-red mus... OMIM:616228
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle muscle atrophy, Progressive proximal muscle weakness, Pelvic girdle amyotrophy, Rim... OMIM:167320
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy, Muscle weakness, Respiratory insufficiency due... OMIM:300816
Angioedema, Hereditary, 5
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619361
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... OMIM:619473
Congenital Myasthenic Syndromes With Glycosylation Defect
Gowers sign, Poor head control, Flexion contracture, Distal muscle weakness, Generalized weakness... ORPHA:353327
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Progressive proximal muscle weakness, Progressive external ophthalmoplegia, Ragged-red muscle fib... ORPHA:663
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Muscle weakness, ... OMIM:616052
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Intrinsic hand muscle atrophy, Diaphragmatic weakness, Type 2 muscle fiber atrophy, Hand muscle a... OMIM:601462
Angioedema, Hereditary, 8
Angioedema, Laryngeal edema, Facial edema, Edema of the dorsum of hands OMIM:619367
Nemaline Myopathy 11, Autosomal Recessive
Nemaline bodies, Gowers sign, Scapular winging, Type 1 muscle fiber predominance, Muscle weakness... OMIM:617336
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Lower lim... OMIM:616924
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... OMIM:302045
Myopathy, Myosin Storage, Autosomal Recessive
Proximal muscle weakness, Right axis deviation, Scapuloperoneal amyotrophy, Calf muscle hypertrop... OMIM:255160
Bethlem Myopathy 2
Flexion contracture, Increased variability in muscle fiber diameter, Muscle weakness, Proximal mu... OMIM:616471
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Distal muscle weakness, Progressive external ophthalmoplegia, Ragged-red muscle fibers, Proximal ... OMIM:617070
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Muscl... OMIM:607855
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Gowers sign, Type 2 muscle fiber atrophy, Ophthalmoparesis, Arthrogryposis multiplex congenita, G... OMIM:608930
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Muscle weakness, Myopathy OMIM:545000
Nemaline Myopathy 8
Nemaline bodies, Flexion contracture, Myofibrillar myopathy, Ophthalmoparesis, Polyhydramnios, Mu... OMIM:615348
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Increased endomysial connective tissue, Scapular winging, Increased variability in muscle fiber d... ORPHA:437572
Myopathy, Centronuclear, 2
Respiratory insufficiency due to muscle weakness, Gowers sign, Flexion contracture, EMG: myopathi... OMIM:255200
Oculopharyngodistal Myopathy 4
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:619790
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscle fiber necrosis, Palpitations, Increased variability in muscle fiber diameter, Muscular dys... OMIM:616812
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... ORPHA:206546
Nemaline Myopathy 3
Nemaline bodies, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Neck flexor weak... OMIM:161800
Congenital Myopathy With Myasthenic-Like Onset
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, EMG: myopathic abn... ORPHA:424107
Solar Urticaria
Angioedema, Periorbital edema, Edema, Syncope ORPHA:97230
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory insufficiency due to muscle weakness, Type 1 fibers relatively smaller than type 2 fi... OMIM:300580
Angioedema, Hereditary, 7
Angioedema, Facial edema OMIM:619366
Adult-Onset Nemaline Myopathy
Nemaline bodies, Respiratory insufficiency due to muscle weakness, Flexion contracture, EMG: myop... ORPHA:171442
Combined Oxidative Phosphorylation Deficiency 28
Polyhydramnios, Ragged-red muscle fibers, Muscle weakness, Congestive heart failure OMIM:616794
Minicore Myopathy With External Ophthalmoplegia
Nemaline bodies, External ophthalmoplegia, Muscular dystrophy, Increased variability in muscle fi... OMIM:255320
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Interosseus muscle atrophy, Dilated cardiomyopathy, Thenar muscle atrophy, D... OMIM:619903
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Gowers sign, Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased ... ORPHA:86812
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Nemaline Myopathy 5
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Progressive... OMIM:605355
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Gowers sign, Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy,... ORPHA:353
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Amish Nemaline Myopathy
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Progressive musc... ORPHA:98902
Bethlem Myopathy
Multiple joint contractures, Quadriceps muscle weakness, Achilles tendon contracture, Flexion con... ORPHA:610
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Diaphragmatic weakness, Increased endomysial connective tissue, Abnormal muscle fibe... ORPHA:75840
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Gowers sign, Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hyp... OMIM:613157
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... OMIM:160565
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Gowers sign, Increased endomysial connective tissue, Flexion contracture, ... OMIM:253700
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial diplegia, Hypertrophied muscle fibers, Abnormal skeletal muscle morphology, Increased vari... ORPHA:98905
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Gowers sign, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Limb-girdle muscle weak... OMIM:613818
Rigid Spine Muscular Dystrophy 1
Increased endomysial connective tissue, Poor head control, Flexion contracture, Muscular dystroph... OMIM:602771
Myasthenic Syndrome, Congenital, 5
Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Fatigable weakness... OMIM:603034
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Gowers sign, Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs... OMIM:618138
Myopathy, Congenital, With Fiber-Type Disproportion
Bulbar palsy, Type 1 fibers relatively smaller than type 2 fibers, Dilated cardiomyopathy, Proxim... OMIM:255310
Melkersson-Rosenthal Syndrome
Macroglossia, Facial palsy, Periorbital edema, Edema ORPHA:2483
Postsynaptic Congenital Myasthenic Syndromes
Fatigable weakness of neck muscles, Triceps weakness, EMG: myopathic abnormalities, Upper limb mu... ORPHA:98913
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy ORPHA:1878
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Muscle weakness OMIM:614807
Cap Myopathy
Gowers sign, Abnormal muscle fiber morphology, Poor head control, Sinus tachycardia, Increased va... ORPHA:171881
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Proximal muscle weakness, Abnormal muscle fiber morphology, Weakness of facial m... ORPHA:1145
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Gowers sign, Type 2 muscle fiber atrophy, Fatigable weakness, Ophthalmoparesis, Arthrogryposis mu... OMIM:608931
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscle fiber atrophy, Rimmed vacuoles, Myositis, Muscle weakness, Centrally nucleated skeletal mu... OMIM:615422
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Dilated cardi... ORPHA:206559
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, Diaphragmatic weakness, Poor head control, EMG: myopathic abnormalities, D... OMIM:614399
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Intermediate Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Type 1 muscl... ORPHA:171433
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
Childhood-Onset Nemaline Myopathy
Facial diplegia, Nemaline bodies, Respiratory insufficiency due to muscle weakness, Flexion contr... ORPHA:171439
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Cataract 47
Cataract, Microcornea OMIM:612018
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Respiratory paralysis, Late-onset proximal muscle weakness, Inc... ORPHA:681
Classic Multiminicore Myopathy
Multiple joint contractures, Muscle fiber atrophy, Poor head control, Right ventricular hypertrop... ORPHA:324604
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Facial diplegia, Respiratory insufficiency due to muscle weakness, Gowers sign, EMG: myopathic ab... OMIM:609560
Central Core Disease
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Respiratory ... ORPHA:597
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Fatigable weakness... OMIM:605809
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Gowers sign, Flexion contracture of finger, Increased endomysial connective tissue, Flexion contr... OMIM:618484
Immune-Mediated Necrotizing Myopathy
Muscle fiber necrosis, Raynaud phenomenon, Proximal muscle weakness in lower limbs, EMG: myopathi... ORPHA:206569
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Atrial arrhyt... OMIM:310300
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Proximal muscle weakness in lower limbs, L... ORPHA:352479
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Diaphragmatic weaknes... OMIM:181405
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Splenomegaly, Generalized lymphadenopathy, Lymph node hypoplasia, Absent t... OMIM:602450
Meige Disease
Predominantly lower limb lymphedema, Facial edema, Edema of the dorsum of hands, Laryngeal edema,... ORPHA:90186
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Arthrogryposis-like hand anomaly, Distal muscle weakness, Diaphragmatic eventration, Foot dorsifl... OMIM:620011
Kearns-Sayre Syndrome
Third degree atrioventricular block, Ragged-red muscle fibers, Skeletal muscle atrophy, Progressi... ORPHA:480
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Neck muscle weakness, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Respiratory... OMIM:617066
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Fatigable weakness, Ophthalmoparesis, Arthrogryposis multiplex conge... OMIM:254210
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Myositis, Periorbital edema OMIM:142680
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Fatigable weakness of swallowing muscles, Weakness of facial mus... ORPHA:596
Angioedema, Hereditary, 1
Intestinal edema, Pharyngeal edema, Angioedema, Laryngeal edema, Muscle weakness, Periorbital edema OMIM:106100
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Type 1 m... OMIM:613954
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... ORPHA:254864
American Trypanosomiasis
Arrhythmia, Myocarditis, Periorbital edema, Edema, Cardiomyopathy, Congestive heart failure ORPHA:3386
Glycogen Storage Disease Due To Aldolase A Deficiency
Muscle fiber atrophy, EMG: myopathic abnormalities, Arrhythmia, Exercise-induced rhabdomyolysis, ... ORPHA:57
Myopathy, Myofibrillar, 8
Nemaline bodies, Gowers sign, Mitral regurgitation, Scapular winging, Joint contracture of the 5t... OMIM:617258
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Pharyngeal edema, Facial edema, Tongue edema, Palpebral edema, Angioedema, Laryngeal edema, Abnor... ORPHA:100057
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... OMIM:540000
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Fountain Syndrome
Facial edema OMIM:229120
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Poor head control, EMG: myopathic abnormalities, Minicore myopathy, ... ORPHA:486815
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers OMIM:619024
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Gowers sign, Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic gird... ORPHA:119
Cataract 3, Multiple Types
Developmental cataract, Nuclear pulverulent cataract, Cerulean cataract, Sutural cataract OMIM:601547
Myopathy, Myofibrillar, 7
Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band streaming, Increased va... OMIM:617114
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, Gowers sign, Left ventricular hypertrophy, Scapular winging, Ty... ORPHA:169186
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Muscle fiber atrophy, Scapular winging, Ragged-red muscle fibers, Proximal ... ORPHA:254886
Adult-Onset Distal Myopathy Due To Vcp Mutation
Facial diplegia, Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Di... ORPHA:329478
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Proximal muscle weakness, Centrally nucleated ske... ORPHA:401768
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Amyotrophic Lateral Sclerosis 21
Hand muscle weakness, Distal muscle weakness, Rimmed vacuoles, Increased variability in muscle fi... OMIM:606070
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... OMIM:619897
Aniridia 2
Iris coloboma, Lens subluxation, Cataract, Aniridia OMIM:617141
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... OMIM:252011
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Facial palsy, Increased variability in muscle fiber diameter, Flex... OMIM:616470
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98855
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower limb muscle w... ORPHA:397744
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Inflammatory ... OMIM:123320
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98853
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of the extraocular muscles, Abnormalit... ORPHA:600
Proximal Myotonic Myopathy
Cataract ORPHA:606
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Progressive external ophthalmoplegia, Ophthalmoparesis, Ragged-red muscle fibers, Dilated cardiom... ORPHA:1349
Lacrimal Duct Defect
Periorbital edema OMIM:149700
Trichinellosis
Facial edema, Retinal hemorrhage, Muscle weakness, Edema, Periorbital edema, Facial palsy, Ophtha... ORPHA:863
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Weakness of facial musculature, Arrhythmia, Pro... ORPHA:352447
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Muscular dystrophy, Proximal muscle weakness, Limb-girdle muscular dystroph... ORPHA:369840
Lymphatic Malformation 6
Facial edema, Chylothorax, Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, ... OMIM:616843
X-Linked Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Respiratory insufficiency due to muscle weakness, Decreased cervical... ORPHA:98863
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Increased endomysial connective tissue, Flexion contracture, Minicore myopathy, Axial muscle weak... ORPHA:178148
Neuraminidase Deficiency
Facial edema, Hydrops fetalis, Muscle weakness, Ascites, Skeletal muscle atrophy, Cardiomyopathy OMIM:256550
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Pol... OMIM:616867
Typical Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, Increased variability in muscle fiber diam... ORPHA:171436
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers, Generalized muscle weakness, Muscle weakness, Progressive external opht... OMIM:613662
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
EMG: myopathic abnormalities, Left ventricular hypertrophy, Heart murmur, Ragged-red muscle fiber... OMIM:615418
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Muscle fiber necrosis, Respiratory insufficiency due to muscle weakness, Flexion con... OMIM:254090
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... ORPHA:169189
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Proteasome-Associated Autoinflammatory Syndrome 2
Periorbital edema OMIM:618048
Idiopathic Congenital Hypothyroidism
Umbilical hernia, Facial edema, Macroglossia, Bradycardia ORPHA:95717
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Muscle fiber necrosis, Respiratory insufficiency due to muscle weakness, Muscle fiber atrophy, Mi... OMIM:258450
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Lujo Hemorrhagic Fever
Facial edema, Hypotension, Myocarditis, Shock, Muscle weakness, Periorbital edema, Subconjunctiva... ORPHA:319213
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Intrinsic hand muscle atrophy, First dorsal interossei muscle weakness, Distal muscle weakness, F... OMIM:619574
Cataract 5, Multiple Types
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract OMIM:116800
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers, Ophthalmoparesis OMIM:500003
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Arrhythmia, Progressive external ophthalmoplegia, Progressive muscl... OMIM:609286
Dermatomyositis
Telangiectasia of the skin, Proximal muscle weakness, Sinus tachycardia, Arrhythmia, Myocarditis,... ORPHA:221
20Q11.2 Microduplication Syndrome
Severe intrauterine growth retardation, Palpebral edema, Underdeveloped supraorbital ridges, Peri... ORPHA:363659
Idiopathic Steroid-Resistant Nephrotic Syndrome
Edema, Pulmonary embolism, Periorbital edema ORPHA:567548
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Weakness of muscles of respiration, EMG: myopathic abnormalities, Rimmed vacuoles, Increased vari... ORPHA:52430
Genetic Steroid-Resistant Nephrotic Syndrome
Periorbital edema, Edema ORPHA:656
Severe Congenital Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, Abnormality of the diaphragm, Type 1 muscl... ORPHA:171430
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Neonatal death, Polyhydramnios, ... OMIM:619334
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Spina bifida occulta, Camptodactyly, Lymphedema, Pleural effusion,... OMIM:235510
Snakebite Envenomation
Muscle fiber necrosis, Respiratory paralysis, Intracranial hemorrhage, Tachycardia, Cardiogenic s... ORPHA:449285
Proteasome-Associated Autoinflammatory Syndrome 3
Flexion contracture, Myositis, Periorbital edema OMIM:617591
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Muscle fiber atrophy, Flexion contracture, Diaphragmatic eventration, Increased variability in mu... OMIM:616866
Waldenström Macroglobulinemia
Retinal hemorrhage, Vasculitis, Pedal edema, Periorbital edema, Pleural effusion, Gastrointestina... ORPHA:33226
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Skeletal muscle autophagosome accumulation, Rimmed vacuoles, Centrally nucleated skeletal muscle ... OMIM:619518
Oculopharyngodistal Myopathy 1
Hypertrophic cardiomyopathy, EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability... OMIM:164310
Cataract 30, Multiple Types
Diffuse nuclear cataract, Pulverulent cataract, Posterior polar cataract OMIM:116300
Spinocerebellar Ataxia 28
Ragged-red muscle fibers, Ophthalmoparesis, Lower limb hypertonia OMIM:610246
King-Denborough Syndrome
Muscle fiber atrophy, Weakness of facial musculature, Minicore myopathy, Type 1 muscle fiber pred... OMIM:619542
Facioscapulohumeral Dystrophy
Palpebral edema, Skeletal muscle atrophy ORPHA:269
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Nonimmune hydrops fetalis ORPHA:477774
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Musc... OMIM:226670
Synaptic Congenital Myasthenic Syndromes
Hand muscle weakness, Poor head control, Right ventricular hypertrophy, Type 2 muscle fiber atrop... ORPHA:98915
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Genetic Recurrent Myoglobinuria
Type 2 muscle fiber atrophy, Arrhythmia, Myositis, Lower limb muscle weakness, Abnormality of jaw... ORPHA:99845
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Upper limb muscle weakness, Lower limb muscle weakness, Lower limb hype... ORPHA:99013
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Prostatitis OMIM:300755
Nasolacrimal Duct Cyst
Periorbital edema ORPHA:141083
Acute Monoblastic/Monocytic Leukemia
Periorbital edema ORPHA:514
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Muscle fiber necrosis, Mitral regurgitation, Weakness of facial musculature, Increased variabilit... OMIM:607459
Polymyositis
Abnormal muscle fiber morphology, Arrhythmia, Vasculitis, Myocardial infarction, Abnormal atriove... ORPHA:732
Neutral Lipid Storage Myopathy
Hand muscle weakness, Gowers sign, Progressive proximal muscle weakness, Rimmed vacuoles, Pelvic ... ORPHA:98908
Myotonic Dystrophy 2
Premature ventricular contraction, Weakness of facial musculature, Palpitations, Tachycardia, Typ... OMIM:602668
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Juvenile Nasopharyngeal Angiofibroma
Facial edema, Epistaxis ORPHA:289596
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Muscle fiber necrosis, EMG: myopathic abnormalities, Increased variability in muscle fiber diamet... OMIM:157640
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Retinal hemorrhage, Polyhydramnios, Centrally nucleated skeletal muscle fibe... OMIM:615368
Marinesco-Sjogren Syndrome
Flexion contracture, Rimmed vacuoles, Progressive muscle weakness, Centrally nucleated skeletal m... OMIM:248800
Hyperekplexia 2
Exaggerated startle response, Astigmatism OMIM:614619
Congenital Myasthenic Syndrome
Muscle fiber atrophy, Poor head control, EMG: myopathic abnormalities, Limb-girdle muscle weaknes... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Muscle fiber atrophy, Poor head control, EMG: myopathic abnormalities, Limb-girdle muscle weaknes... ORPHA:98914
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Periorbital edema, Myositis, Vasculitis ORPHA:32960
Multiple Sulfatase Deficiency
Periorbital edema OMIM:272200
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left ventricular noncompaction cardiomyopathy, Restrictive cardiomyopathy, Mitral regurgitation, ... OMIM:619424
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Rhabdomyolysis, Muscle fiber atrophy, Muscle weakness, Increased muscle lipid content ORPHA:228302
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers, Ophthalmoplegia OMIM:614924
Cataract 33, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:611391
Familial Thyroid Dyshormonogenesis
Umbilical hernia, Facial edema, Macroglossia, Bradycardia ORPHA:95716
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Abnormal muscle fiber morphology, Skeletal muscle atrophy, Ophthalmoparesis ORPHA:3068
Juvenile Amyotrophic Lateral Sclerosis
Muscle fiber atrophy, Lower-limb joint contracture, Upper-limb joint contracture, Retrocollis, Di... ORPHA:300605
Zygomycosis
Melena, Periorbital fullness, Hematemesis, Myocarditis, Hematochezia, Periorbital edema, Pleural ... ORPHA:73263
Kearns-Sayre Syndrome
Arrhythmia, Progressive external ophthalmoplegia, Third degree atrioventricular block, Ragged-red... OMIM:530000
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Abnormal muscle fiber morphology, Joint contracture of the hand, Umbilical ... OMIM:175700
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion OMIM:617300
Granulomatosis With Polyangiitis
Angina pectoris, Recurrent intrapulmonary hemorrhage, Arrhythmia, Vasculitis, Cerebral ischemia, ... ORPHA:900
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the extraocular muscles, Distal muscle weakness, Ophthalmoparesis, Foot dorsiflexo... ORPHA:298
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Fatigable weakness, Ophthalmoparesis, Proximal amyotrophy OMIM:159400
Rare Cutaneous Lupus Erythematosus
Telangiectasia of the skin, Periorbital edema, Facial edema, Nail bed telangiectasia ORPHA:535
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Facial edema, Edema OMIM:618154
Cutis Laxa, Autosomal Recessive, Type Ic
Periorbital edema, Umbilical hernia OMIM:613177
Lipodystrophy, Congenital Generalized, Type 4
Flexion contracture, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in mu... OMIM:613327
Hypotonia-Cystinuria Syndrome
Ragged-red muscle fibers, Facial palsy, Muscle weakness OMIM:606407
Ehlers-Danlos Syndrome, Classic-Like
Proximal muscle weakness, Muscle fiber splitting, Proximal amyotrophy OMIM:606408
Angioedema, Hereditary, 3
Intestinal edema, Pharyngeal edema, Facial edema, Angioedema OMIM:610618
Gjc2-Related Late-Onset Primary Lymphedema
Predominantly lower limb lymphedema, Facial edema, Genital edema, Edema of the dorsum of hands, P... ORPHA:568051
Congenital Fiber-Type Disproportion Myopathy
Flexion contracture of finger, Weakness of facial musculature, Fatigable weakness of bulbar muscl... ORPHA:2020
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Respiratory paralysis, Late-onset proximal muscle weakness, Pal... ORPHA:79102
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ophthalmoparesis, Ragged-red muscle fibers, Dilat... ORPHA:70595
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Chylous ascites, Palpebral edema, Nonimmune hydrops fetalis, Polyhydra... OMIM:265300
Myotubular Myopathy With Abnormal Genital Development
Polyhydramnios, Centrally nucleated skeletal muscle fibers, Neonatal death, Myopathy OMIM:300219
Pparg-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Abnormality of skeletal muscle fiber ... ORPHA:79083
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscle fiber atrophy, Flexion contracture, Absent muscle fiber merosin, Macroglossia, Muscular dy... ORPHA:258
Overlap Myositis
Distal lower limb muscle weakness, Raynaud phenomenon, Perifascicular muscle fiber atrophy, Proxi... ORPHA:206572
Lymphatic Malformation 5
Predominantly lower limb lymphedema, Facial edema OMIM:153200
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Intrauterine growth retardation, Polyhydramnios, Facial edema, Arthrogryposis multiplex congenita ORPHA:86822
Igg4-Related Submandibular Gland Disease
Xerostomia, Facial edema, Periorbital edema ORPHA:449432
Igg4-Related Ophthalmic Disease
Palpebral edema, Abnormality of the extraocular muscles, Periorbital edema ORPHA:449563
Williams Syndrome
Macroglossia, Pulmonic stenosis, Mitral regurgitation, Sudden cardiac death, Cerebral ischemia, R... ORPHA:904
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, External ophthalmoplegia, EMG: myopathic abnormalities, Palpitations, Facial pal... ORPHA:254892
Native American Myopathy
Muscle fiber atrophy, Facial hemangioma, Abnormality of skeletal muscle fiber size, Camptodactyly... ORPHA:168572
Lassa Fever
Shock, Facial edema, Muscle weakness ORPHA:99824
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Abnormality of skeletal muscle fiber size, Hypertrophic cardiomyopat... ORPHA:2348
Coenzyme Q10 Deficiency, Primary, 1
Progressive muscle weakness, Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Decreased lev... OMIM:607426
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Facial edema, Palpebral edema, Pulmonary embolism, Pedal edema, Anasarca, Edema, Pleural effusion... ORPHA:567546
Neuromuscular Oculoauditory Syndrome
Muscle fiber necrosis, Poor head control, EMG: myopathic abnormalities, Calf muscle hypertrophy, ... OMIM:618733
Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Abnormality of the shoulder girdle musculature, Abnormality of the calf musculat... ORPHA:565612
Sunct Syndrome
Palpebral edema, Facial edema ORPHA:57145
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... OMIM:608643
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Muscle fiber atrophy, EMG: myopathic abnormalities, Wrist drop, Limb muscle weakness, Arterial ru... ORPHA:1900
Hereditary Angioedema Type 1
Intestinal edema, Pharyngeal edema, Facial edema, Tongue edema, Hypotension, Edema of the dorsum ... ORPHA:100050
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Rhabdomyolysis, Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Muscle weakness OMIM:124000
Fountain Syndrome
Spina bifida, Facial edema, Spina bifida occulta ORPHA:3219
Congenital Analbuminemia
Facial edema, Low pulse pressure, Pedal edema, Edema, Oligohydramnios ORPHA:86816
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Muscle weakness, Muscle fiber splitting, Myopathy OMIM:611881
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Isolated Thyroid-Stimulating Hormone Deficiency
Umbilical hernia, Facial edema, Macroglossia, Bradycardia ORPHA:90674
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Igg4-Related Dacryoadenitis And Sialadenitis
Periorbital fullness, Facial edema, Abnormality of the extraocular muscles, Xerostomia, Palpebral... ORPHA:79078
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Melas
Wolff-Parkinson-White syndrome, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... ORPHA:550
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Distal muscle weakness, Ophthalmoparesis, Progressive external ophthalmoplegia, Distal amyotrophy... OMIM:603041
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Mitochondrial Complex I Deficiency, Nuclear Type 1
Poor head control, Concentric hypertrophic cardiomyopathy, Increased intramyocellular lipid dropl... OMIM:252010
Mitochondrial Dna-Associated Leigh Syndrome
Ophthalmoparesis, Ragged-red muscle fibers, Dilated cardiomyopathy, Cardiac conduction abnormalit... ORPHA:255210
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Facial edema OMIM:618398
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Exaggerated startle response OMIM:253800
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Rothmund-Thomson Syndrome
Calcinosis, Telangiectasia of the skin, Facial edema ORPHA:2909
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Rothmund-Thomson Syndrome Type 1
Calcinosis, Telangiectasia, Facial edema ORPHA:221008
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Flexion contracture, Increased variability in muscle fiber diameter, Increased intramyocellular l... ORPHA:17
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Umbilical hernia, Facial edema, Macroglossia, Bradycardia ORPHA:226307
Tay-Sachs Disease
Tremor, Dystonia, Exaggerated startle response, Laryngeal dystonia ORPHA:845
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Rothmund-Thomson Syndrome Type 2
Calcinosis, Facial edema ORPHA:221016
Sandhoff Disease
Exaggerated startle response OMIM:268800
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Chikungunya
Joint swelling, Facial edema, Raynaud phenomenon, Pedal edema, Epistaxis ORPHA:324625
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Singleton-Merten Syndrome 1
Muscle fiber atrophy, Aortic valve stenosis, Tendon rupture, Muscle weakness, Pleural effusion, C... OMIM:182250
Choreoacanthocytosis
Muscle fiber atrophy, Distal muscle weakness, Distal amyotrophy, Dilated cardiomyopathy, Peroneal... ORPHA:2388
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Dystonia 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 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
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

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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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