Gene Summary

Name:
solute carrier family 8 (sodium/calcium exchanger), member 3
Synonyms:
Ncx3

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
increased startle reflex Slc8a3tm1.1(KOMP)Vlcg HOM Early adult 2.66×10-20
abnormal sleep behavior Slc8a3tm1.1(KOMP)Vlcg HOM   Early adult 4.18×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote Not available
Spinal cord  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Uterus  Section 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)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Heart 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 Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Urinary bladder 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)

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (1 of 1)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 0.0% (0 of 1)
Brain N/A homozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 1)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (1 of 1)
Forelimb N/A homozygote Ambiguous
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (1 of 1)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 1)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (1 of 1)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 1)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 1)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (1 of 1)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (1 of 1)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A homozygote Ambiguous
Rib pre-cartilage condensation N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Skin N/A heterozygote 0.0% (0 of 1)
Skin N/A homozygote Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
rib pre-cartilage condensation 1.75% (1 of 57)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

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 Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Section

20 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

16 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

2 Images

Electroretinography 2

Rod and cone PDF

4 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Slc8a3 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 Slc8a3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Weakness of facial musculature, Angulated muscle fibers, Scapular winging, Shoulder girdle muscle... OMIM:619477
Macrophagic Myofasciitis
Myalgia, Fatigue, Arthralgia ORPHA:592
Pontiac Fever
Myalgia, Fatigue ORPHA:99748
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Increased variability in muscle fiber diameter, Muscular dystrophy, EMG: ... OMIM:253601
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Diaminopentanuria
Neurodegeneration, Ataxia OMIM:222350
Myofibrillar Myopathy 11
Increased variability in muscle fiber diameter, Z-band streaming, Centrally nucleated skeletal mu... OMIM:619178
Tremor, Hereditary Essential, 2
Fatigue OMIM:602134
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Ataxia OMIM:610951
Tuberculosis
Fatigue ORPHA:3389
Amyotrophic Lateral Sclerosis
Fatigable weakness of bulbar muscles, Motor neuron atrophy, Fatigable weakness of respiratory mus... ORPHA:803
Autosomal Dominant Spastic Paraplegia Type 37
Impaired vibration sensation in the lower limbs, Degeneration of the lateral corticospinal tracts... ORPHA:171612
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Muscular dystrophy, Skel... OMIM:613157
Combined Oxidative Phosphorylation Deficiency 28
Abdominal pain, Ragged-red muscle fibers, Fatigue OMIM:616794
Mantle Cell Lymphoma
Fatigue ORPHA:52416
Spinocerebellar Ataxia, Autosomal Recessive 13
Gait ataxia, Dysdiadochokinesis, Ataxia, Dysmetria, Cerebellar atrophy, Fatigue OMIM:614831
Cholangiocarcinoma
Abdominal pain, Fatigue ORPHA:70567
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Myalgia, Infl... OMIM:123320
Hypothyroidism, Congenital, Nongoitrous, 7
Fatigue OMIM:618573
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Arthrogryposis multiplex congenita, Fatigue OMIM:616326
Adiposis Dolorosa
Chronic pain, Fatigue, Arthralgia OMIM:103200
Myasthenic Syndrome, Congenital, 21, Presynaptic
Knee flexion contracture, Exercise intolerance, Fatigue, Facial palsy OMIM:617239
Narcolepsy 3
Narcolepsy OMIM:609039
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Congenital diaphragmatic hernia, Cerebellar atrophy, Neurodegeneration ORPHA:438134
Hodgkin Lymphoma
Chest pain, Fatigue, Ataxia, Bone pain ORPHA:98293
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Fatigue ORPHA:79283
Epiphyseal Dysplasia, Multiple, 2
Foot pain, Knee pain, Fatigue OMIM:600204
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Urinary incontinence, Dysdiadochokinesis, Ataxia, Dysmetria, Cerebellar atrophy, Atrophy/Degenera... OMIM:612319
Sengers Syndrome
Myopathy, Fatigue, Exercise intolerance OMIM:212350
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Lower limb pain, Ataxia, Myalgia, Exercise intolerance, Chest pain, Ragged-red muscle fibers, Fat... ORPHA:1349
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Alexander Disease
Dysmetria, Ataxia, Fatigue OMIM:203450
Congenital Myasthenic Syndromes With Glycosylation Defect
Knee flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Abnormal peripheral n... ORPHA:353327
Parkinsonism-Dystonia 2, Infantile-Onset
Ataxia, Hypomimic face, Dysdiadochokinesis, Fatigue OMIM:618049
Hyperinsulinism Due To Glucokinase Deficiency
Fatigue ORPHA:79299
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, Myalgia, EMG: myopathic abnormalities, Exercise intolerance, Cerebral a... OMIM:609286
Undifferentiated Pleomorphic Sarcoma
Fatigue ORPHA:2023
Narcolepsy 1
Narcolepsy OMIM:161400
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Fatigable weakness, Fatigable weakness of neck muscles, Ataxia, Myopathy, ... ORPHA:42
Eosinophilic Fasciitis
Paresthesia, Arthralgia, Myositis, Myalgia, Muscular edema, Fatigue ORPHA:3165
Hyperinsulinism Due To Insr Deficiency
Fatigue ORPHA:263458
Methylmalonic Acidemia With Homocystinuria
Fatigue ORPHA:26
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Chorea, Cerebral cortical atrophy, Ataxia, Cerebral atrophy, Cerebellar atrophy, Neurodegeneration OMIM:617672
Atypical Juvenile Parkinsonism
Gait ataxia, Brain atrophy, Hypomimic face, Leg muscle stiffness, Fatigue ORPHA:391411
Autoimmune Hemolytic Anemia, Cold Type
Fatigue ORPHA:228312
Pediatric Hepatocellular Carcinoma
Hepatic necrosis, Abdominal pain, Epigastric pain, Fatigue ORPHA:33402
Thymic Carcinoma
Fatigable weakness, Chest pain, Fatigue ORPHA:99868
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Fatigue ORPHA:314632
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Gait ataxia, Ataxia, Myopathy, Exercise intolerance, Fatigue OMIM:613077
Familial Cold Urticaria
Abdominal pain, Arthralgia, Myalgia, Dysesthesia, Fatigue ORPHA:47045
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Achilles tendon contracture, Left ventricular hypertrophy, EMG: myopathic abnormalities, Myalgia,... OMIM:615418
Autosomal Dominant Optic Atrophy, Classic Form
Corpus callosum atrophy, Ataxia, Myalgia, Weakness of facial musculature, Myopathy, Skeletal musc... ORPHA:98673
Thyroid Hemiagenesis
Macroglossia, Fatigue ORPHA:95719
Mitochondrial Myopathy With Lactic Acidosis
Dysmetria, Fatigue OMIM:251950
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Gait ataxia, Truncal ataxia, Limb ataxia, Ataxia, Myalgia, Dysesthesia, Cerebellar atrophy, Limb ... OMIM:619259
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Increased cerebral lipofuscin, Chronic fatigue, Bone pain OMIM:610539
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Neurodegeneration, Ataxia OMIM:615889
Postpoliomyelitis Syndrome
Pain, Myalgia, Arthralgia, Skeletal muscle atrophy, Fatigue ORPHA:2942
Athyreosis
Macroglossia, Fatigue ORPHA:95713
Liposarcoma
Abdominal pain, Paresthesia, Fatigue ORPHA:69078
Combined Oxidative Phosphorylation Deficiency 33
Myopathy, Left ventricular hypertrophy, Fatigue, Exercise intolerance OMIM:617713
Mucolipidosis Type Iii
Fatigue ORPHA:577
Narcolepsy 7
Narcolepsy OMIM:614250
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibration sensation at ankles, Flexion contracture, Ataxia, Impaired proprioception, Dys... OMIM:615491
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Gait ataxia, Cerebral cortical atrophy, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Skele... OMIM:615157
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Postexertional symptom exacerbation, Rhabdomyolysis, Glycogen accumulation in muscle fiber lysoso... ORPHA:368
Spontaneous Periodic Hypothermia
Ataxia, Fatigue ORPHA:29822
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Spinal muscular atrophy, Chronic fatigue, Myalgia, Weakness of facial musculature, Myopathy, Skel... ORPHA:254875
Autosomal Dominant Optic Atrophy Plus Syndrome
Limb-girdle muscle weakness, Myopathy, Ataxia, Fatigue ORPHA:1215
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Somatic sensory dysfunction, Limb-girdle muscle weakness, Distal amyotrophy, Upper limb muscle we... ORPHA:466768
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Fatigue ORPHA:86893
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Fatigable weakness, Myopathy, Fatigue ORPHA:257
Analbuminemia
Patent ductus arteriosus, Fatigue OMIM:616000
Becker Muscular Dystrophy
Myalgia, Exercise intolerance, Skeletal muscle atrophy, Fatigue ORPHA:98895
Dopa-Responsive Dystonia
Fatigable weakness, Urinary incontinence, Fatigue, Pain ORPHA:255
Laryngeal Neuroendocrine Tumor
Chronic fatigue ORPHA:100083
Neurodegeneration With Brain Iron Accumulation 6
Distal amyotrophy, Neurodegeneration OMIM:615643
Classic Hodgkin Lymphoma
Chest pain, Fatigue, Ataxia, Bone pain ORPHA:391
Typhoid
Abdominal pain, Ataxia, Arthralgia, Myalgia, Fatigue ORPHA:99745
Schnitzler Syndrome
Myalgia, Fatigue, Arthralgia, Bone pain ORPHA:37748
Pfapa Syndrome
Abdominal pain, Fatigue, Arthralgia ORPHA:42642
Unclassified Myelodysplastic Syndrome
Night sweats, Fatigue ORPHA:98827
X-Linked Sideroblastic Anemia
Fatigue ORPHA:75563
Poliomyelitis
Paresthesia, Abnormal skeletal muscle morphology, Lower limb muscle weakness, Fatigable weakness ... ORPHA:2912
Classical-Like Ehlers-Danlos Syndrome Type 1
Myalgia, Skeletal muscle atrophy, Fatigue, Arthralgia ORPHA:230839
Porphyria
Paresthesia, Abdominal pain, Dupuytren contracture, Chest pain, Fatigue ORPHA:738
Arachnoiditis
Paresthesia, Fatigue, Arthralgia ORPHA:137817
Coenzyme Q10 Deficiency, Primary, 1
Decreased level of coenzyme Q10 in skeletal muscle, Diffuse cerebral atrophy, Ataxia, Cerebellar ... OMIM:607426
Follicular Lymphoma
Night sweats, Fatigue ORPHA:545
Immunodeficiency, Common Variable, 11
Fatigue OMIM:615767
Adrenoleukodystrophy
Urinary incontinence, Impaired vibration sensation at ankles, Lower limb muscle weakness, Truncal... OMIM:300100
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Chronic fatigue OMIM:234810
Familial Cold Autoinflammatory Syndrome 1
Myalgia, Chills, Arthralgia, Fatigue OMIM:120100
Hypotonia-Cystinuria Syndrome
Fatigue ORPHA:163690
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Fatigue ORPHA:589905
Intellectual Developmental Disorder, Autosomal Dominant 35
Gait ataxia, Facial hypotonia, Congenital muscular torticollis, Fatigue OMIM:616355
Hemochromatosis, Type 4
Arthralgia, Fatigue OMIM:606069
Babesiosis
Myalgia, Fatigue, Arthralgia ORPHA:108
Cerebrooculofacioskeletal Syndrome 1
Knee flexion contracture, Flexion contracture, Brain atrophy, Joint contracture of the hand, Elbo... OMIM:214150
Intellectual Disability And Myopathy Syndrome
Achilles tendon contracture, Fatigue OMIM:619719
Adrenomyeloneuropathy
Urinary incontinence, Back pain, Axonal degeneration, Atrophy/Degeneration involving the corticos... ORPHA:139399
Combined Oxidative Phosphorylation Deficiency 24
Neuronal loss in central nervous system, Weakness of facial musculature, Myopathy, Skeletal muscl... OMIM:616239
Hepatitis, Fulminant Viral, Susceptibility To
Fatigue OMIM:618549
Brain Dopamine-Serotonin Vesicular Transport Disease
Ataxia, Hypomimic face, Dysdiadochokinesis, Fatigue ORPHA:352649
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fatigue ORPHA:276608
Nipah Virus Disease
Myalgia, Fatigue ORPHA:99825
Liddle Syndrome
Fatigue ORPHA:526
Lyme Disease
Myalgia, Paresthesia, Fatigue, Arthralgia ORPHA:91546
Mal De Débarquement
Fatigue ORPHA:210272
Spinal Arteriovenous Metameric Syndrome
Arthralgia, Bone pain, Gangrene, Fatigue ORPHA:53721
Carnitine Palmitoyl Transferase 1A Deficiency
Sudden cardiac death, Skeletal muscle atrophy, Fatigue ORPHA:156
Mast Cell Sarcoma
Fatigue ORPHA:66661
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Global brain atrophy, Brain atrophy, Torticollis, Ataxia, Fatigue OMIM:617186
Atrial Standstill
Flexion contracture, Postexertional symptom exacerbation, Muscular dystrophy, Left ventricular no... ORPHA:1344
Takayasu Arteritis
Gangrene, Arthralgia, Myalgia, Chest pain, Fatigue ORPHA:3287
Genetic Hyperferritinemia Without Iron Overload
Fatigue, Arthralgia ORPHA:254704
Rheumatic Fever
Chorea, Aplasia/Hypoplasia of the abdominal wall musculature, Abdominal pain, Arthralgia, Chest p... ORPHA:3099
Paroxysmal Nocturnal Hemoglobinuria 2
Abdominal pain, Fatigue, Arthralgia OMIM:615399
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Myositis, Fatigue, Arthralgia ORPHA:69126
Neurodegeneration With Brain Iron Accumulation 2A
Ataxia, Neuronal loss in central nervous system, Cerebral atrophy, Cerebellar atrophy, Neurodegen... OMIM:256600
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Pulmonary Hypertension, Primary, 5
Right ventricular hypertrophy, Fatigue OMIM:265400
Primary Familial Polycythemia
Abdominal pain, Fatigue, Arthralgia ORPHA:90042
Alpha-Thalassemia-Myelodysplastic Syndrome
Fatigue ORPHA:231401
Hyperprolinemia Type 2
Abdominal pain, Chronic fatigue, Myalgia, Exercise intolerance, Dysesthesia, Distal sensory impai... ORPHA:79101
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Leg muscle stiffness, Distal sensory impairment, Fatigue OMIM:606693
Hemochromatosis, Type 3
Fatigue OMIM:604250
Neurodegeneration With Brain Iron Accumulation 3
Chorea, Choreoathetosis, Hypomimic face, Ataxia, Neurodegeneration OMIM:606159
Autoinflammation With Infantile Enterocolitis
Myalgia, Fatigue, Arthralgia OMIM:616050
Satoyoshi Syndrome
Skeletal muscle hypertrophy, Fatigue OMIM:600705
Osteopetrosis, Autosomal Dominant 3
Asthenia, Fatigue OMIM:618107
Angiostrongyliasis
Paresthesia, Abdominal pain, Arthralgia, Pain, Myalgia, Hyperesthesia, Neck pain, Fatigue ORPHA:74
Cold Agglutinin Disease
Back pain, Fatigue, Arthralgia ORPHA:56425
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Fatigue ORPHA:927
Idiopathic/Heritable Pulmonary Arterial Hypertension
Chest pain, Fatigue ORPHA:422
Autosomal Dominant Dopa-Responsive Dystonia
Gait ataxia, Impaired vibration sensation in the lower limbs, Torticollis, Ataxia, Progressive fl... ORPHA:98808
New-Onset Refractory Status Epilepticus
Global brain atrophy, Fatigue ORPHA:363558
Glycogen Storage Disease Ixa1
Fatigue OMIM:306000
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy, Head tremor, Resting tremor ORPHA:314404
Rheumatoid Arthritis
Digital flexor tenosynovitis, Fatigue, Arthralgia OMIM:180300
Refractory Anemia
Fatigue ORPHA:98826
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Flexion contracture, Neurodegeneration, Ataxia OMIM:615919
Isolated Agammaglobulinemia
Fatigue ORPHA:229717
Leishmaniasis
Night sweats, Fatigue, Arthralgia ORPHA:507
Myotonia Fluctuans
Myalgia, Spasticity of facial muscles, Fatigue ORPHA:99734
Dubin-Johnson Syndrome
Abdominal pain, Fatigue ORPHA:234
Cryptogenic Organizing Pneumonia
Chest pain, Night sweats, Fatigue, Arthralgia ORPHA:1302
Insulinoma
Paresthesia, Abnormality of pain sensation, Fatigue ORPHA:97279
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Choreoathetosis, Diffuse cerebral atrophy, Cerebral atrophy, Neu... ORPHA:391428
Polymyositis
Abnormal muscle fiber morphology, Abdominal pain, Arthralgia, Myalgia, Fatigue ORPHA:732
Non-Functioning Paraganglioma
Episodic abdominal pain, Chest pain, Fatigue ORPHA:94080
Benign Recurrent Intrahepatic Cholestasis
Abdominal pain, Fatigue ORPHA:65682
Cholestasis-Lymphedema Syndrome
Abdominal pain, Bone pain, Fatigue ORPHA:1414
Autosomal Dominant Progressive External Ophthalmoplegia
Gait ataxia, Shoulder girdle muscle weakness, Left ventricular hypertrophy, Hypomimic face, Ataxi... ORPHA:254892
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Patent ductus arteriosus, Scapular winging, Pain insensitivity, Fatigue OMIM:617061
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Flexion contracture, Fatigue ORPHA:98791
Krabbe Disease
Neurodegeneration, Diffuse cerebral atrophy OMIM:245200
Whipple Disease
Abdominal pain, Ataxia, Arthralgia, Myositis, Myalgia, Chest pain, Fatigue ORPHA:3452
Gm2 Gangliosidosis, Ab Variant
Chorea, Neurodegeneration, Cerebral atrophy ORPHA:309246
Proximal Spinal Muscular Atrophy
Knee flexion contracture, Flexion contracture, Multiple joint contractures, Triceps weakness, Elb... ORPHA:70
Adiposis Dolorosa
Paresthesia, Fatigue, Arthralgia ORPHA:36397
Muckle-Wells Syndrome
Myalgia, Chronic fatigue, Arthralgia OMIM:191900
Pituicytoma
Fatigue ORPHA:251623
Legionnaires Disease
Abdominal pain, Ataxia, Arthralgia, Myalgia, Chest pain, Fatigue ORPHA:549
Fixed Drug Eruption
Chills, Fatigue ORPHA:293812
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Fatigue OMIM:274300
Aggressive Systemic Mastocytosis
Abdominal pain, Abdominal cramps, Arthralgia, Constitutional symptom, Fatigue, Bone pain ORPHA:98850
Relapsing Fever
Abdominal pain, Arthralgia, Myalgia, Chills, Fatigue ORPHA:91547
Cronkhite-Canada Syndrome
Abdominal pain, Fatigue ORPHA:2930
Corticosteroid-Binding Globulin Deficiency
Asthenia, Fatigue OMIM:611489
Neurodegeneration With Brain Iron Accumulation 2B
Gait ataxia, Chorea, Dysdiadochokinesis, Dysmetria, Cerebral atrophy, Cerebellar atrophy, Neurode... OMIM:610217
Autoimmune Hemolytic Anemia
Abdominal pain, Fatigue ORPHA:98375
Mixed-Type Autoimmune Hemolytic Anemia
Fatigue, Arthralgia ORPHA:90036
Erythrocytosis, Familial, 1
Fatigue OMIM:133100
Glioblastoma
Fatigue ORPHA:360
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... OMIM:608643
Evans Syndrome
Fatigue ORPHA:1959
Giant Cell Arteritis
Sudden cardiac death, Paresthesia, Gangrene, Abdominal pain, Ataxia, Arthralgia, Myalgia, Fatigue ORPHA:397
Progressive Supranuclear Palsy
Neuronal loss in central nervous system, Abnormal synaptic transmission, Cerebral cortical atrophy ORPHA:683
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Fatigue OMIM:241150
Mitochondrial Complex I Deficiency, Nuclear Type 29
Myalgia, Exercise-induced myalgia, Exercise intolerance, Fatigue OMIM:618250
Adult-Onset Still Disease
Myalgia, Abdominal pain, Fatigue, Arthralgia ORPHA:829
Eosinophilic Granulomatosis With Polyangiitis
Abdominal pain, Arthralgia, Myositis, Myalgia, Central nervous system degeneration, Fatigue ORPHA:183
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Loeffler Endocarditis
Chest pain, Left ventricular hypertrophy, Fatigue ORPHA:75566
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Drug-Induced Autoimmune Hemolytic Anemia
Fatigue ORPHA:90037
Kaposi Sarcoma
Fatigue ORPHA:33276
Congenital Fiber-Type Disproportion Myopathy
Knee flexion contracture, Fatigable weakness of bulbar muscles, Flexion contracture, Hip contract... ORPHA:2020
Thyroid Hypoplasia
Macroglossia, Fatigue ORPHA:95720
Postorgasmic Illness Syndrome
Fatigue ORPHA:279947
Systemic Capillary Leak Syndrome
Myalgia, Constitutional symptom, Abdominal pain, Fatigue ORPHA:188
Immunodeficiency 70
Chronic fatigue OMIM:618969
Tick-Borne Encephalitis
Somatic sensory dysfunction, Back pain, Fatigable weakness of respiratory muscles, Arthralgia, My... ORPHA:297
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Chronic Beryllium Disease
Fatigue ORPHA:133
Acquired Methemoglobinemia
Abdominal pain, Fatigue ORPHA:464453
Portal Hypertension, Noncirrhotic, 2
Fatigue OMIM:619463
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Autosomal Dominant Hypophosphatemic Rickets
Bone pain, Fatigue ORPHA:89937
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:300894
Aregenerative Anemia
Fatigable weakness of skeletal muscles, Fatigue ORPHA:101096
Cinca Syndrome
Myalgia, Fatigue, Arthralgia ORPHA:1451
Cystinosis
Myopathy, Fatigue ORPHA:213
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Chills, Fatigue ORPHA:86884
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Limb-girdle muscle weakness, Rhabdomyolysis, Myalgia, Exercise intolerance, Skeletal muscle atrop... ORPHA:370
Avian Influenza
Rhabdomyolysis, Abdominal pain, Myalgia, Chest pain, Fatigue ORPHA:454836
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Limb-girdle muscle weakness, Rhabdomyolysis, Pelvic girdle muscle weakness, Myalgia, Exercise int... ORPHA:79240
Alveolar Echinococcosis
Chest pain, Abnormal skeletal muscle morphology, Low back pain, Abdominal pain, Epigastric pain, ... ORPHA:284
Autosomal Agammaglobulinemia
Fatigue ORPHA:33110
Autoerythrocyte Sensitization Syndrome
Epigastric pain, Asthenia, Arthralgia, Myalgia, Pain, Intramuscular hematoma, Fatigue ORPHA:324636
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Gait ataxia, Chorea, Left ventricular hypertrophy, Ataxia, Cerebral atrophy, Neurodegeneration OMIM:618321
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Lead Poisoning
Somatic sensory dysfunction, Abdominal pain, Impairment of activities of daily living, Abdominal ... ORPHA:330015
Acute Interstitial Pneumonia
Myalgia, Chest pain, Fatigue, Arthralgia ORPHA:79126
Primary Myelofibrosis
Constitutional symptom, Flank pain, Fatigue ORPHA:824
Acute Transverse Myelitis
Somatic sensory dysfunction, Urinary incontinence, Back pain, Paresthesia, Impaired proprioceptio... ORPHA:139417
Gm2-Gangliosidosis, Ab Variant
Chorea, Neurodegeneration, Cerebral atrophy OMIM:272750
Deafness-Lymphedema-Leukemia Syndrome
Fatigue ORPHA:3226
Glycogen Storage Disease Due To Acid Maltase Deficiency
Flexion contracture, Fatigable weakness of respiratory muscles, Lower limb muscle weakness, Glyco... ORPHA:365
Post-Traumatic Pituitary Deficiency
Fatigue ORPHA:95619
Ebstein Malformation Of The Tricuspid Valve
Patent ductus arteriosus, Sudden cardiac death, Chest pain, Fatigue ORPHA:1880
Gitelman Syndrome
Paresthesia, Rhabdomyolysis, Abdominal pain, Ataxia, Arthralgia, Fatigue OMIM:263800
Glucocorticoid Resistance, Generalized
Fatigue OMIM:615962
Autoimmune Hemolytic Anemia, Warm Type
Fatigue, Arthralgia ORPHA:90033
Symptomatic Form Of Hemochromatosis Type 1
Abdominal pain, Decreased muscle mass, Fatigue, Arthralgia ORPHA:465508
X-Linked Agammaglobulinemia
Fatigue ORPHA:47
Japanese Encephalitis
Elbow flexion contracture, Choreoathetosis, Rigors, Abdominal pain, Myalgia, Chills, Skeletal mus... ORPHA:79139
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Diffuse cerebellar atrophy, Axonal degeneration, Neurodegeneration ORPHA:478029
Botulism
Abdominal pain, Fatigue ORPHA:1267
Herpes Simplex Virus Encephalitis
Chills, Fatigue ORPHA:1930
Mixed Connective Tissue Disease
Arthralgia, Myositis, Myalgia, Chest pain, Fatigue ORPHA:809
Barth Syndrome
Exercise intolerance, Skeletal myopathy, Fatigue OMIM:302060
Iatrogenic Botulism
Fatigue ORPHA:254509
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Gait ataxia, Rhabdomyolysis, Ataxia, Acute rhabdomyolysis, Cerebral atrophy, Neurodegeneration OMIM:616878
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Achilles tendon calcification, Fatigue OMIM:617994
Klatskin Tumor
Abdominal pain, Fatigue ORPHA:99978
Atrial Septal Defect, Sinus Venosus Type
Exercise intolerance, Fatigue ORPHA:99105
Parkinson Disease 20, Early-Onset
Cerebral cortical atrophy, Leg muscle stiffness, Fatigue OMIM:615530
Cyclic Neutropenia
Abdominal pain, Fatigue, Bone pain ORPHA:2686
Inhalational Botulism
Fatigue ORPHA:254504
Idiopathic Pulmonary Hemosiderosis
Fatigue ORPHA:99931
Congenital Isolated Acth Deficiency
Fatigue ORPHA:199296
Vexas Syndrome
Night sweats, Fatigue, Arthralgia OMIM:301054
Peripartum Cardiomyopathy
Abdominal pain, Chest pain, Left ventricular hypertrophy, Fatigue ORPHA:563
Multiple System Atrophy 1, Susceptibility To
Urinary incontinence, Skeletal muscle atrophy, Ataxia, Neurodegeneration OMIM:146500
Acth-Independent Macronodular Adrenal Hyperplasia 2
Fatigue OMIM:615954
Neurodegeneration With Brain Iron Accumulation 4
Ataxia, Cerebellar atrophy, Scapular winging, Neurodegeneration, Distal amyotrophy OMIM:614298
Acute Promyelocytic Leukemia
Abdominal pain, Fatigue, Gangrene, Bone pain ORPHA:520
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Bilateral camptodactyly, Back pain, Fatigue OMIM:619234
Reynolds Syndrome
Myalgia, Fatigue ORPHA:779
Erythrocytosis, Familial, 2
Fatigue OMIM:263400
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Fatigue, Bone pain ORPHA:324964
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Myalgia, Exercise intolerance, Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Fatigue ORPHA:264580
Hyperinsulinism Due To Hnf4A Deficiency
Fatigue ORPHA:263455
Malignant Atrophic Papulosis
Chest pain, Abdominal pain, Pain insensitivity, Fatigue ORPHA:679
Poems Syndrome
Hyperesthesia, Paresthesia, Fatigue, Pain ORPHA:2905
Inhalational Anthrax
Fatigue ORPHA:247257
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Car T Cell Therapy-Associated Cytokine Release Syndrome
Myalgia, Fatigue ORPHA:542323
Solitary Fibrous Tumor/Hemangiopericytoma
Low back pain, Night sweats, Fatigue ORPHA:2126
Bone Marrow Failure Syndrome 6
Myalgia, Chronic fatigue OMIM:618849
Simple Cryoglobulinemia
Paresthesia, Abdominal pain, Arthralgia, Spontaneous pain sensation, Fatigue ORPHA:91139
Cardiac-Valvular Ehlers-Danlos Syndrome
Left ventricular hypertrophy, Tendon rupture, Fatigue ORPHA:230851
Lynch Syndrome
Abdominal pain, Flexion contracture, Paresthesia, Fatigue ORPHA:144
Acute Panmyelosis With Myelofibrosis
Low back pain, Fatigue ORPHA:86843
Refractory Anemia With Excess Blasts
Fatigue, Bone pain ORPHA:86839
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Immunodeficiency 97 With Autoinflammation
Abdominal pain, Fatigue OMIM:619802
Chronic Myeloid Leukemia
Fatigue ORPHA:521
Acute Monoblastic/Monocytic Leukemia
Fatigue ORPHA:514
Familial Colorectal Cancer Type X
Abdominal pain, Flexion contracture, Paresthesia, Fatigue ORPHA:440437
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Cystic Echinococcosis
Abnormality of the diaphragm, Epigastric pain, Fatigue ORPHA:400
Congenital Disorder Of Glycosylation, Type It
Sudden cardiac death, Exercise intolerance, Rhabdomyolysis, Fatigue OMIM:614921
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Sporadic Pheochromocytoma/Secreting Paraganglioma
Episodic abdominal pain, Chest pain, Fatigue ORPHA:276621
Juvenile Dermatomyositis
Calcinosis, Abdominal pain, Arthralgia, Myositis, Myalgia, Fatigue ORPHA:93672
Mastocytosis
Impaired temperature sensation, Fatigue ORPHA:98292
Igg4-Related Retroperitoneal Fibrosis
Low back pain, Renal tubular epithelial necrosis, Abdominal pain, Pain, Flank pain, Fatigue ORPHA:49041
Macs Syndrome
Fatigue OMIM:613075
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Niemann-Pick Disease Type C
Limb dystonia, Narcolepsy, Tremor, Axial dystonia, Dystonia, Intention tremor ORPHA:646
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Exaggerated startle response, Tremor OMIM:618056
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Hennekam-Beemer Syndrome
Camptodactyly of finger, Abdominal pain, Fatigue ORPHA:2135
Listeriosis
Somatic sensory dysfunction, Back pain, Rhabdomyolysis, Abdominal pain, Ataxia, Arthralgia, Myalg... ORPHA:533
Congenital Gerbode Defect
Chest pain, Right ventricular hypertrophy, Fatigue ORPHA:99095
Abnormal Hair, Joint Laxity, And Developmental Delay
Lower limb pain, Fatigue OMIM:261990
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abdominal pain, Bone pain, Arthralgia, Myalgia, Fatigue ORPHA:98849
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Congenital Dyserythropoietic Anemia Type Iii
Fatigue ORPHA:98870
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Neurodegeneration, Ataxia OMIM:618476
Hereditary Xanthinuria
Myopathy, Flank pain, Chronic fatigue ORPHA:3467
Waldenström Macroglobulinemia
Ataxia, Fatigue ORPHA:33226
Cerebral Visual Impairment
Central nervous system degeneration, Neurodegeneration ORPHA:447788
Shigellosis
Rhabdomyolysis, Abdominal pain, Abdominal cramps, Asthenia, Fatigue ORPHA:810
Septo-Optic Dysplasia Spectrum
Fatigue ORPHA:3157
Polycythemia Vera
Abdominal pain, Fatigue, Arthralgia ORPHA:729
Functioning Gonadotropic Adenoma
Fatigue ORPHA:91348
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Fatigue ORPHA:20
Neuroleptic Malignant Syndrome
Chorea, Urinary incontinence, Rhabdomyolysis, Rigors, Fatigue ORPHA:94093
Gamma-Heavy Chain Disease
Fatigue ORPHA:100026
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Hellp Syndrome
Back pain, Abdominal pain, Epigastric pain, Shoulder pain, Fatigue ORPHA:244242
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Granulomatosis With Polyangiitis
Myalgia, Asthenia, Gangrene, Fatigue OMIM:608710
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Isolated Right Ventricular Hypoplasia
Fatigue ORPHA:439
Steinert Myotonic Dystrophy
Fatigable weakness of bulbar muscles, Cerebral cortical atrophy, Abnormality of masticatory muscl... ORPHA:273
Autoimmune Pulmonary Alveolar Proteinosis
Chest pain, Fatigue ORPHA:747
Neurodegeneration With Brain Iron Accumulation 1
Urinary incontinence, Global brain atrophy, Decreased muscle mass, Choreoathetosis, Ataxia, Cereb... OMIM:234200
Erdheim-Chester Disease
Abdominal pain, Fatigue, Ataxia, Bone pain ORPHA:35687
Al Amyloidosis
Macroglossia, Fatigue ORPHA:85443
Castleman Disease
Constitutional symptom, Abdominal pain, Flank pain, Fatigue ORPHA:160
Mucopolysaccharidosis, Type Ii
Flexion contracture, Neurodegeneration, Macroglossia OMIM:309900
Late-Onset Isolated Acth Deficiency
Abdominal pain, Fatigue, Arthralgia ORPHA:199299
Pituitary Apoplexy
Trigeminal neuralgia, Fatigue ORPHA:95613
Chediak-Higashi Syndrome
Neurodegeneration, Foot dorsiflexor weakness, Ataxia OMIM:214500
Hepatocellular Carcinoma
Hepatic necrosis, Abdominal pain, Bone pain, Epigastric pain, Constitutional symptom, Fatigue ORPHA:88673
Autoimmune Hepatitis
Abdominal pain, Chronic fatigue, Arthralgia ORPHA:2137
Dopamine Beta-Hydroxylase Deficiency
Chest pain, Fatigue ORPHA:230
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Fatigue ORPHA:300298
Hereditary Pheochromocytoma-Paraganglioma
Episodic abdominal pain, Chest pain, Fatigue ORPHA:29072
Xeroderma Pigmentosum
Cerebral cortical atrophy, Fatigue, Ataxia, Arthralgia ORPHA:910
Behçet Disease
Paresthesia, Gangrene, Abdominal pain, Ataxia, Arthralgia, Myositis, Myalgia, Fatigue ORPHA:117
Resistance To Thyrotropin-Releasing Hormone Syndrome
Fatigue ORPHA:99832
Kufor-Rakeb Syndrome
Urinary incontinence, Cerebral cortical atrophy, Hypomimic face, Leg muscle stiffness, Bowel inco... ORPHA:306674
Mucopolysaccharidosis, Type Vii
Flexion contracture, Neurodegeneration, Macroglossia OMIM:253220
Non-Functioning Pituitary Adenoma
Fatigue ORPHA:91349
Renal Nutcracker Syndrome
Abdominal pain, Flank pain, Fatigue ORPHA:71273
Lymphoid Interstitial Pneumonia
Fatigue ORPHA:79128
Chikungunya
Knee pain, Paresthesia, Shoulder pain, Myalgia, Arthralgia, Chills, Fatigue ORPHA:324625
Carney Triad
Leiomyosarcoma, Abdominal pain, Fatigue ORPHA:139411
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Hypocalciuric Hypercalcemia, Familial, Type Iii
Bone pain, Fatigue OMIM:600740
Hughes-Stovin Syndrome
Chest pain, Fatigue ORPHA:228116
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Hurler Syndrome
Flexion contracture, Neurodegeneration, Macroglossia OMIM:607014
Multiple Myeloma
Paresthesia, Fatigue, Bone pain ORPHA:29073
Gaucher Disease Type 3
Fatigue, Ataxia, Bone pain ORPHA:77261
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Isolated Thyroid-Stimulating Hormone Deficiency
Macroglossia, Fatigue ORPHA:90674
Menkes Disease
Chorea, Aplasia/Hypoplasia of the abdominal wall musculature, Fatigue ORPHA:565
Q Fever
Myalgia, Night sweats, Fatigue ORPHA:781
Congenital Analbuminemia
Fatigue ORPHA:86816
Prolactinoma
Fatigue ORPHA:2965
Primary Hepatic Neuroendocrine Carcinoma
Episodic abdominal pain, Night sweats, Chronic fatigue ORPHA:100085
Pulmonary Alveolar Microlithiasis
Fatigable weakness, Chest pain, Fatigue ORPHA:60025
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Torticollis, Abdominal pain, Ataxia, Neurodegeneration, Fatigue OMIM:619475
Arterial Tortuosity Syndrome
Fatigue ORPHA:3342
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration ORPHA:79244
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Myalgia, Fatigue, Arthralgia ORPHA:183675
Atrial Septal Defect, Ostium Primum Type
Exercise intolerance, Left ventricular hypertrophy, Fatigue ORPHA:99106
Tay-Sachs Disease
Exaggerated startle response, Tremor, Dystonia, Laryngeal dystonia ORPHA:845
Stevens-Johnson Syndrome
Sudden cardiac death, Abdominal pain, Fatigue ORPHA:36426
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Abdominal pain, Fatigue ORPHA:567546
Immunodeficiency 58
Fatigue OMIM:618131
Toxic Epidermal Necrolysis
Sudden cardiac death, Abdominal pain, Fatigue ORPHA:537
Primary Sjögren Syndrome
Chorea, Somatic sensory dysfunction, Arthralgia, Myositis, Myalgia, Chronic pain, Fatigue ORPHA:289390
Acute Adrenal Insufficiency
Abdominal pain, Fatigue, Arthralgia ORPHA:95409
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Immunodeficiency 31C
Skeletal muscle atrophy, Fatigue OMIM:614162
Hermansky-Pudlak Syndrome
Abdominal pain, Fatigue ORPHA:79430
Fabry Disease
Abdominal pain, Left ventricular hypertrophy, Arthralgia, Myalgia, Fatigue ORPHA:324
Gaucher Disease
Abdominal pain, Ataxia, Arthralgia, Fatigue, Arthrogryposis multiplex congenita, Bone pain ORPHA:355
Sandhoff Disease
Exaggerated startle response OMIM:268800
Granulomatosis With Polyangiitis
Gangrene, Abdominal pain, Arthralgia, Myalgia, Chest pain, Fatigue ORPHA:900
Primary Biliary Cholangitis
Fatigue ORPHA:186
Familial Glucocorticoid Deficiency
Episodic abdominal pain, Chronic fatigue ORPHA:361
Kikuchi-Fujimoto Disease
Night sweats, Ataxia, Arthralgia, Myalgia, Chills, Fatigue ORPHA:50918
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Fatigue ORPHA:309031
Hemorrhagic Fever-Renal Syndrome
Back pain, Abdominal pain, Myalgia, Chills, Fatigue ORPHA:340
Brucellosis
Chorea, Abdominal pain, Asthenia, Arthralgia, Chills, Fatigue ORPHA:1304
Dermatomyositis
Gangrene, Arthralgia, Myalgia, Inflammatory myopathy, Fatigue ORPHA:221
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy ORPHA:293987
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Gastrointestinal Stromal Tumor
Fatigue ORPHA:44890
African Trypanosomiasis
Narcolepsy, Tremor, Choreoathetosis ORPHA:3385
Loeys-Dietz Syndrome 6
Chronic fatigue, Arthralgia OMIM:619656
Familial Pancreatic Carcinoma
Back pain, Abdominal pain, Chronic fatigue ORPHA:1333
Hyperparathyroidism-Jaw Tumor Syndrome
Episodic abdominal pain, Mandibular pain, Fatigue, Bone pain ORPHA:99880
Dehydrated Hereditary Stomatocytosis
Episodic fatigue, Abdominal pain ORPHA:3202
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Fatigue, Arthralgia ORPHA:562639
Gallbladder Neuroendocrine Tumor
Episodic abdominal pain, Chronic fatigue ORPHA:100086
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Fatigue ORPHA:293978
Coccidioidomycosis
Myalgia, Chest pain, Fatigue ORPHA:228123
Malt Lymphoma
Abdominal pain, Fatigue ORPHA:52417
Atrial Septal Defect, Coronary Sinus Type
Exercise intolerance, Fatigue ORPHA:99104
Primary Sclerosing Cholangitis
Abdominal pain, Generalized amyotrophy, Fatigue ORPHA:171
Parathyroid Carcinoma
Episodic abdominal pain, Mandibular pain, Fatigue, Bone pain ORPHA:143
Sheehan Syndrome
Chills, Chronic fatigue, Arthralgia ORPHA:91355
Zygomycosis
Abdominal pain, Chest pain, Fatigue, Pain ORPHA:73263
Wiskott-Aldrich Syndrome
Sudden cardiac death, Chest pain, Fatigue ORPHA:906
Exercise-Induced Malignant Hyperthermia
Rhabdomyolysis, Ataxia, Fatigue ORPHA:466650
Acromegaly
Paresthesia, Macroglossia, Fatigue, Arthralgia ORPHA:963
Somatomammotropinoma
Paresthesia, Macroglossia, Fatigue, Arthralgia ORPHA:314769
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Insulin-Resistance Syndrome Type B
Fatigue ORPHA:2298
Lymphangioleiomyomatosis
Abdominal pain, Chest pain, Fatigue ORPHA:538
Nocardiosis
Night sweats, Chills, Chest pain, Ocular pain, Fatigue ORPHA:31204
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Lymphatic Filariasis
Fatigue, Pain ORPHA:2035
Secondary Intestinal Lymphangiectasia
Abdominal colic, Fatigue ORPHA:90363
Addison Disease
Abdominal pain, Fatigue, Arthralgia ORPHA:85138
Laubry-Pezzi Syndrome
Patent ductus arteriosus, Chest pain, Left ventricular hypertrophy, Fatigue ORPHA:99094
Infection-Related Hemolytic Uremic Syndrome
Abdominal pain, Abdominal cramps, Fatigue ORPHA:544482
Atrial Septal Defect, Ostium Secundum Type
Exercise intolerance, Fatigue ORPHA:99103
Selective Igm Deficiency
Chronic fatigue ORPHA:331235
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Macroglossia, Fatigue ORPHA:226307
Gaisböck Syndrome
Epigastric pain, Fatigue ORPHA:90041
Hypermobile Ehlers-Danlos Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Paresthesia, Tendon rupture, Arthralgia, My... ORPHA:285
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal tubular epithelial necrosis, Abdominal pain, Arthralgia, Myalgia, Flank pain, Ocular pain, ... ORPHA:91500
Kawasaki Disease
Abdominal pain, Fatigue, Arthralgia ORPHA:2331
Tsh-Secreting Pituitary Adenoma
Fatigue ORPHA:91347
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Abnormality of the extraocular muscles, Fatigue ORPHA:79078
Nijmegen Breakage Syndrome
Neurodegeneration, Rhabdomyosarcoma OMIM:251260
Generalized Glucocorticoid Resistance Syndrome
Fatigue ORPHA:786
Familial Hypocalciuric Hypercalcemia
Episodic abdominal pain, Fatigue ORPHA:405
Ileal Neuroendocrine Tumor
Episodic abdominal pain, Chronic fatigue ORPHA:100078
Jejunal Neuroendocrine Tumor
Episodic abdominal pain, Chronic fatigue ORPHA:100077
Marfan Syndrome
Myalgia, Skeletal muscle atrophy, Arthralgia/arthritis, Chronic fatigue ORPHA:558
Adenocarcinoma Of The Anal Canal
Abdominal pain, Chronic fatigue ORPHA:424016
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Myalgia, Renal tubular epithelial necrosis, Vulvodynia, Fatigue ORPHA:95455
Somatostatinoma
Episodic abdominal pain, Chronic fatigue ORPHA:97283
Plague
Abdominal pain, Arthralgia, Chills, Chest pain, Fatigue ORPHA:707
Chronic Thromboembolic Pulmonary Hypertension
Fatigue ORPHA:70591
Vipoma
Episodic abdominal pain, Chronic fatigue ORPHA:97282
Tetrasomy 9P
Myositis, Fatigue ORPHA:3310
Eisenmenger Syndrome
Patent ductus arteriosus, Chest pain, Exercise intolerance, Fatigue ORPHA:97214
Classical Ehlers-Danlos Syndrome
Limb pain, Fatigue, Arthralgia ORPHA:287
Glucagonoma
Episodic abdominal pain, Chronic fatigue ORPHA:97280
Witteveen-Kolk Syndrome
Contracture of the distal interphalangeal joint of the 4th finger, Congenital diaphragmatic herni... OMIM:613406
Igg4-Related Kidney Disease
Abdominal pain, Fatigue ORPHA:449395
Sarcoidosis
Chest pain, Fatigue, Facial palsy ORPHA:797
Non-Acquired Panhypopituitarism
Fatigue ORPHA:90695
Goodpasture Syndrome
Chills, Chest pain, Fatigue OMIM:233450
Tropical Endomyocardial Fibrosis
Myocardial calcification, Fatigue ORPHA:75565
Aneurysm-Osteoarthritis Syndrome
Camptodactyly of finger, Left ventricular hypertrophy, Chronic fatigue, Patent ductus arteriosus ORPHA:284984
Primrose Syndrome
Knee flexion contracture, Flexion contracture, Hip contracture, Ataxia, Skeletal muscle atrophy, ... OMIM:259050
Combined Pituitary Hormone Deficiencies, Genetic Forms
Fatigue ORPHA:95494
Loeys-Dietz Syndrome 3
Patent ductus arteriosus, Left ventricular hypertrophy, Camptodactyly, Chronic fatigue, Sudden death OMIM:613795
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
Juvenile Polyposis Syndrome
Abdominal pain, Chronic fatigue ORPHA:2929
Congenital Total Pulmonary Venous Return Anomaly
Patent ductus arteriosus, Fatigue ORPHA:99125

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 Slc8a3

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 Slc8a3.

No publications found that use IMPC mice or data for Slc8a3.

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MGI Allele Allele Type Produced
Slc8a3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Slc8a3tm464123(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Slc8a3tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice

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