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

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Select physiological systems to view:
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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  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 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
rib pre-cartilage condensation Ambiguous
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

Embryo LacZ

LacZ images wholemount

8 Images

Sleep Wake

Wake state (bmp file)

16 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Section

20 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

Auditory Brain Stem Response

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

8 Images

Electroretinography 2

Rod and cone PDF

4 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
Fatigue, Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of ... OMIM:619477
Macrophagic Myofasciitis
Fatigue, Arthralgia, Myalgia ORPHA:592
Pontiac Fever
Fatigue, Myalgia ORPHA:99748
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Fatigue, Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diame... OMIM:253601
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Myofibrillar Myopathy 11
Fatigue, Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, M... OMIM:619178
Diaminopentanuria
Neurodegeneration, Ataxia OMIM:222350
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration OMIM:610951
Amyotrophic Lateral Sclerosis
Fatigue, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fatigable weakness of bulbar mus... ORPHA:803
Tremor, Hereditary Essential, 2
Fatigue OMIM:602134
Tuberculosis
Fatigue ORPHA:3389
Autosomal Dominant Spastic Paraplegia Type 37
Fatigue, Impaired vibration sensation in the lower limbs, Lower limb muscle weakness, Degeneratio... ORPHA:171612
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Fatigue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased vari... OMIM:613157
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Fatigue, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis OMIM:614831
Adiposis Dolorosa
Fatigue, Arthralgia, Chronic pain OMIM:103200
Combined Oxidative Phosphorylation Deficiency 28
Fatigue, Ragged-red muscle fibers, Abdominal pain OMIM:616794
Mantle Cell Lymphoma
Fatigue ORPHA:52416
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Creatine Phosphokinase, Elevated Serum
Fatigue, Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Myalgia, Muscular dys... OMIM:123320
Cholangiocarcinoma
Fatigue, Abdominal pain ORPHA:70567
Hypothyroidism, Congenital, Nongoitrous, 7
Fatigue OMIM:618573
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Fatigue, Arthrogryposis multiplex congenita OMIM:616326
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration, Congenital diaphragmatic hernia, Gait ataxia ORPHA:438134
Epiphyseal Dysplasia, Multiple, 2
Fatigue, Knee pain, Foot pain OMIM:600204
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Fatigue, Exercise intolerance, Ataxia, Ragged-red muscle fibers, Chest pain, Myalgia, Lower limb ... ORPHA:1349
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Fatigue ORPHA:79283
Parkinsonism-Dystonia 2, Infantile-Onset
Fatigue, Dysdiadochokinesis, Ataxia, Hypomimic face OMIM:618049
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Ataxia, Urinary incontinence, Dysmetria, Dysdiadochokinesis, Neurodegeneratio... OMIM:612319
Congenital Glucokinase-Related Hyperinsulinism
Fatigue ORPHA:79299
Alexander Disease
Fatigue, Ataxia, Dysmetria OMIM:203450
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Abnormal peripheral nervous system synaptic transmission, Facial palsy, General... ORPHA:353327
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Fatigue, Exercise intolerance, Ragged-red muscle fibers, Limb muscle weakness, Cerebral atrophy, ... OMIM:609286
Undifferentiated Pleomorphic Sarcoma
Fatigue ORPHA:2023
Familial Atrial Fibrillation
Exercise intolerance, Fatigue, Chest pain ORPHA:334
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Fatigue, Skeletal muscle atrophy, Ataxia, Fatigable weakness, Myopathy, Exercise-induced myalgia,... ORPHA:42
Mitochondrial Myopathy With Lactic Acidosis
Fatigue, Dysmetria OMIM:251950
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Exercise intolerance, Fatigue, Ataxia, Gait ataxia, Myopathy OMIM:613077
Eosinophilic Fasciitis
Fatigue, Myositis, Arthralgia, Paresthesia, Myalgia, Muscular edema ORPHA:3165
Hyperinsulinism Due To Insr Deficiency
Fatigue ORPHA:263458
Methylmalonic Acidemia With Homocystinuria
Fatigue ORPHA:26
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Chorea, Cerebral atrophy, Neurodegeneration, Cerebral cortical atrophy OMIM:617672
Atypical Juvenile Parkinsonism
Fatigue, Gait ataxia, Brain atrophy, Leg muscle stiffness, Hypomimic face ORPHA:391411
Pediatric Hepatocellular Carcinoma
Fatigue, Epigastric pain, Hepatic necrosis, Abdominal pain ORPHA:33402
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Fatigue, Diffuse cerebral atrophy ORPHA:314632
Thymic Carcinoma
Fatigable weakness, Fatigue, Chest pain ORPHA:99868
Familial Cold Urticaria
Fatigue, Abdominal pain, Dysesthesia, Arthralgia, Myalgia ORPHA:47045
Autosomal Dominant Optic Atrophy, Classic Form
Cerebellar atrophy, Skeletal muscle atrophy, Scapular winging, Fatigue, Ataxia, Corpus callosum a... ORPHA:98673
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Fatigue, Skeletal muscle atrophy, Exercise intolerance, Achilles tendon contracture, Ragged-red m... OMIM:615418
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Increased cerebral lipofuscin, Chronic fatigue, Bone pain OMIM:610539
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cerebellar atrophy, Fatigue, Ataxia, Dysesthesia, Limb ataxia, Gait ataxia, Myalgia, Truncal atax... OMIM:619259
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Fatigue, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, Lower limb mus... ORPHA:209335
Thyroid Hemiagenesis
Fatigue, Macroglossia ORPHA:95719
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Ataxia, Neurodegeneration OMIM:615889
Postpoliomyelitis Syndrome
Fatigue, Skeletal muscle atrophy, Arthralgia, Myalgia, Pain ORPHA:2942
Liposarcoma
Fatigue, Paresthesia, Abdominal pain ORPHA:69078
Athyreosis
Fatigue, Macroglossia ORPHA:95713
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Cerebra... OMIM:615157
Mucolipidosis Type Iii
Fatigue ORPHA:577
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Flexion contracture, Impaired proprioce... OMIM:615491
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Fatigue, Skeletal muscle atrophy, Exercise intolerance, Glycogen accumulation in muscle fiber lys... ORPHA:368
Spontaneous Periodic Hypothermia
Fatigue, Ataxia ORPHA:29822
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Exercise intolerance, Skeletal muscle atrophy, Chronic fatigue, Spinal muscular atrophy, Myopathy... ORPHA:254875
Autosomal Dominant Optic Atrophy Plus Syndrome
Fatigue, Limb-girdle muscle weakness, Ataxia, Myopathy ORPHA:1215
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Urinary incontinence, Hand muscle weakness, Limb-girdle muscle weakness, Upper limb muscle weakne... ORPHA:466768
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Fatigable weakness, Myopathy, Fatigue ORPHA:257
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Fatigue ORPHA:86893
Narcolepsy 3
Narcolepsy OMIM:609039
Sengers Syndrome
Fatigue, Myopathy, Exercise intolerance, Sudden cardiac death OMIM:212350
Analbuminemia
Fatigue, Patent ductus arteriosus OMIM:616000
Becker Muscular Dystrophy
Exercise intolerance, Skeletal muscle atrophy, Fatigue, Myalgia ORPHA:98895
Classic Hodgkin Lymphoma
Fatigue, Bone pain, Chest pain, Ataxia ORPHA:391
Typhoid
Fatigue, Ataxia, Abdominal pain, Arthralgia, Myalgia ORPHA:99745
Laryngeal Neuroendocrine Tumor
Chronic fatigue ORPHA:100083
Schnitzler Syndrome
Fatigue, Arthralgia, Bone pain, Myalgia ORPHA:37748
Poliomyelitis
Fatigue, Skeletal muscle atrophy, Exercise intolerance, Hypoplasia of the musculature, Abnormal s... ORPHA:2912
Neurodegeneration With Brain Iron Accumulation 6
Distal amyotrophy, Neurodegeneration OMIM:615643
Pfapa Syndrome
Fatigue, Arthralgia, Abdominal pain ORPHA:42642
Unclassified Myelodysplastic Syndrome
Fatigue, Night sweats ORPHA:98827
Arachnoiditis
Fatigue, Arthralgia, Paresthesia ORPHA:137817
Classical-Like Ehlers-Danlos Syndrome Type 1
Fatigue, Skeletal muscle atrophy, Arthralgia, Myalgia ORPHA:230839
X-Linked Sideroblastic Anemia
Fatigue ORPHA:75563
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Chronic fatigue OMIM:234810
Follicular Lymphoma
Fatigue, Night sweats ORPHA:545
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Fatigue, Diffuse cerebral atrophy, Ataxia, Ragged-red muscle fibers, Decrease... OMIM:607426
Immunodeficiency, Common Variable, 11
Fatigue OMIM:615767
Adrenoleukodystrophy
Urinary incontinence, Bowel incontinence, Limb ataxia, Neurodegeneration, Truncal ataxia, Lower l... OMIM:300100
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration, Neuronal loss in central nervous... OMIM:256600
Houge-Janssens Syndrome 1
Fatigue, Congenital muscular torticollis, Facial hypotonia, Gait ataxia OMIM:616355
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Fatigue ORPHA:589905
Familial Cold Autoinflammatory Syndrome 1
Fatigue, Chills, Arthralgia, Myalgia OMIM:120100
Hypotonia-Cystinuria Syndrome
Fatigue ORPHA:163690
Congenital Myopathy 22A, Classic
Fatigue, Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles ... OMIM:620351
Intellectual Disability And Myopathy Syndrome
Fatigue, Achilles tendon contracture OMIM:619719
Narcolepsy 1
Narcolepsy OMIM:161400
Hemochromatosis, Type 4
Fatigue, Arthralgia OMIM:606069
Brain Dopamine-Serotonin Vesicular Transport Disease
Fatigue, Dysdiadochokinesis, Ataxia, Hypomimic face ORPHA:352649
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Flexion contracture, Elbow flexion contracture, Kne... OMIM:214150
Babesiosis
Fatigue, Arthralgia, Myalgia ORPHA:108
Adrenomyeloneuropathy
Back pain, Fatigue, Urinary incontinence, Bowel incontinence, Atrophy/Degeneration involving the ... ORPHA:139399
Paroxysmal Nocturnal Hemoglobinuria 2
Fatigue, Arthralgia, Abdominal pain OMIM:615399
Hepatitis, Fulminant Viral, Susceptibility To
Fatigue OMIM:618549
Mal De Débarquement
Fatigue ORPHA:210272
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Neurodegeneratio... OMIM:616239
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fatigue ORPHA:276608
Liddle Syndrome
Fatigue ORPHA:526
Nipah Virus Disease
Fatigue, Myalgia ORPHA:99825
Lyme Disease
Fatigue, Arthralgia, Paresthesia, Myalgia ORPHA:91546
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Fatigue, Torticollis, Ataxia, Brain atrophy, Global brain atrophy OMIM:617186
Hyperprolinemia Type 2
Exercise intolerance, Chronic fatigue, Abdominal pain, Dysesthesia, Distal sensory impairment, My... ORPHA:79101
Atrial Standstill
Fatigue, Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular d... ORPHA:1344
Takayasu Arteritis
Fatigue, Chest pain, Arthralgia, Myalgia, Gangrene ORPHA:3287
Carnitine Palmitoyl Transferase 1A Deficiency
Fatigue, Skeletal muscle atrophy, Sudden cardiac death ORPHA:156
Mast Cell Sarcoma
Fatigue ORPHA:66661
Spinal Arteriovenous Metameric Syndrome
Fatigue, Gangrene, Arthralgia, Bone pain ORPHA:53721
Genetic Hyperferritinemia Without Iron Overload
Fatigue, Arthralgia ORPHA:254704
Myasthenic Syndrome, Congenital, 21, Presynaptic
Fatigue, Exercise intolerance, Fatigable weakness of skeletal muscles, Knee flexion contracture, ... OMIM:617239
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Papa Syndrome
Fatigue, Myositis, Arthralgia ORPHA:69126
Rheumatic Fever
Fatigue, Abdominal pain, Chorea, Aplasia/Hypoplasia of the abdominal wall musculature, Arthralgia... ORPHA:3099
Alpha-Thalassemia-Myelodysplastic Syndrome
Fatigue ORPHA:231401
Pulmonary Hypertension, Primary, 5
Fatigue, Right ventricular hypertrophy OMIM:265400
Hemochromatosis, Type 3
Fatigue OMIM:604250
Congenital Heart Block
Fatigue, Patent ductus arteriosus, Exercise intolerance ORPHA:60041
Primary Familial Polycythemia
Fatigue, Arthralgia, Abdominal pain ORPHA:90042
Kufor-Rakeb Syndrome
Fatigue, Torticollis, Ataxia, Distal sensory impairment, Leg muscle stiffness OMIM:606693
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Chorea, Choreoathetosis, Neurodegeneration, Hypomimic face OMIM:606159
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Fatigue, Ataxia ORPHA:927
Autoinflammation With Infantile Enterocolitis
Fatigue, Arthralgia, Myalgia OMIM:616050
Satoyoshi Syndrome
Skeletal muscle hypertrophy, Fatigue OMIM:600705
Autosomal Dominant Dopa-Responsive Dystonia
Fatigue, Torticollis, Progressive flexion contractures, Ataxia, Impaired vibration sensation in t... ORPHA:98808
Osteopetrosis, Autosomal Dominant 3
Fatigue, Asthenia OMIM:618107
Angiostrongyliasis
Fatigue, Abdominal pain, Arthralgia, Paresthesia, Myalgia, Hyperesthesia, Neck pain, Pain ORPHA:74
Narcolepsy 7
Narcolepsy OMIM:614250
Cold Agglutinin Disease
Back pain, Fatigue, Arthralgia ORPHA:56425
Idiopathic/Heritable Pulmonary Arterial Hypertension
Fatigue, Chest pain ORPHA:422
New-Onset Refractory Status Epilepticus
Fatigue, Global brain atrophy ORPHA:363558
Glycogen Storage Disease Ixa1
Fatigue OMIM:306000
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Cerebral atrophy, Choreoathetosis, Frontotemporal cerebral atrophy, Neu... ORPHA:391428
Isolated Agammaglobulinemia
Fatigue ORPHA:229717
Refractory Anemia
Fatigue ORPHA:98826
Gm2 Gangliosidosis, Ab Variant
Chorea, Neurodegeneration, Cerebral atrophy ORPHA:309246
Insulinoma
Abnormality of pain sensation, Fatigue, Paresthesia ORPHA:97279
Rheumatoid Arthritis
Fatigue, Digital flexor tenosynovitis, Arthralgia OMIM:180300
Non-Functioning Paraganglioma
Fatigue, Chest pain, Episodic abdominal pain ORPHA:94080
Cryptogenic Organizing Pneumonia
Fatigue, Night sweats, Arthralgia, Chest pain ORPHA:1302
Leishmaniasis
Fatigue, Night sweats, Arthralgia ORPHA:507
Adiposis Dolorosa
Fatigue, Arthralgia, Paresthesia ORPHA:36397
Myotonia Fluctuans
Fatigue, Spasticity of facial muscles, Myalgia ORPHA:99734
Dubin-Johnson Syndrome
Fatigue, Abdominal pain ORPHA:234
Cholestasis-Lymphedema Syndrome
Fatigue, Bone pain, Abdominal pain ORPHA:1414
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Fatigue, Exercise intolerance, Ataxia, Facial palsy, Quadriceps muscle weakne... ORPHA:254892
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Patent ductus arteriosus, Scapular winging, Pain insensitivity, Fatigue OMIM:617061
Benign Recurrent Intrahepatic Cholestasis
Fatigue, Abdominal pain ORPHA:65682
Polymyositis
Fatigue, Abdominal pain, Abnormal muscle fiber morphology, Arthralgia, Myalgia ORPHA:732
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Fatigue, Flexion contracture ORPHA:98791
Muckle-Wells Syndrome
Myalgia, Arthralgia, Chronic fatigue OMIM:191900
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Ataxia, Congenital diaphragmatic hernia, Neurodegeneration, Joint contracture OMIM:615919
Krabbe Disease
Diffuse cerebral atrophy, Neurodegeneration OMIM:245200
Pituicytoma
Fatigue ORPHA:251623
Fixed Drug Eruption
Fatigue, Chills ORPHA:293812
Whipple Disease
Fatigue, Myositis, Ataxia, Abdominal pain, Arthralgia, Chest pain, Myalgia ORPHA:3452
Proximal Spinal Muscular Atrophy
Fatigue, Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexio... ORPHA:70
Legionnaires Disease
Fatigue, Ataxia, Abdominal pain, Chest pain, Arthralgia, Myalgia ORPHA:549
Cronkhite-Canada Syndrome
Fatigue, Abdominal pain ORPHA:2930
Aggressive Systemic Mastocytosis
Fatigue, Abdominal pain, Bone pain, Arthralgia, Abdominal cramps, Constitutional symptom ORPHA:98850
Glioblastoma
Fatigue ORPHA:360
Corticosteroid-Binding Globulin Deficiency
Fatigue, Asthenia OMIM:611489
Relapsing Fever
Fatigue, Abdominal pain, Arthralgia, Myalgia, Chills ORPHA:91547
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Fatigue OMIM:274300
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Neurodegeneration OMIM:620210
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Progressive Supranuclear Palsy
Neuronal loss in central nervous system, Cerebral cortical atrophy, Abnormal synaptic transmission ORPHA:683
Evans Syndrome
Fatigue ORPHA:1959
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Chorea, Dysmetria, Gait ataxia, Cerebral atrophy, Dysdiadochokinesis, Neurode... OMIM:610217
Mixed-Type Autoimmune Hemolytic Anemia
Fatigue, Arthralgia ORPHA:90036
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:300894
Giant Cell Arteritis
Fatigue, Ataxia, Sudden cardiac death, Abdominal pain, Arthralgia, Paresthesia, Myalgia, Gangrene ORPHA:397
Mitochondrial Complex I Deficiency, Nuclear Type 29
Fatigue, Exercise-induced myalgia, Exercise intolerance, Myalgia OMIM:618250
Erythrocytosis, Familial, 1
Fatigue OMIM:133100
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Fatigue OMIM:241150
Congenital Fiber-Type Disproportion Myopathy
Fatigue, Hip contracture, Hypoplasia of the musculature, Ankle flexion contracture, Fatigable wea... ORPHA:2020
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Postorgasmic Illness Syndrome
Fatigue ORPHA:279947
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Acquired Methemoglobinemia
Fatigue, Abdominal pain ORPHA:464453
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Eosinophilic Granulomatosis With Polyangiitis
Fatigue, Myositis, Abdominal pain, Central nervous system degeneration, Arthralgia, Myalgia ORPHA:183
Chronic Beryllium Disease
Fatigue ORPHA:133
Thyroid Hypoplasia
Fatigue, Macroglossia ORPHA:95720
Portal Hypertension, Noncirrhotic, 2
Fatigue OMIM:619463
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Myopathy, Fatigue, Exercise intolerance OMIM:617713
Adult-Onset Still Disease
Fatigue, Arthralgia, Myalgia, Abdominal pain ORPHA:829
Loeffler Endocarditis
Left ventricular hypertrophy, Fatigue, Chest pain ORPHA:75566
Systemic Capillary Leak Syndrome
Fatigue, Constitutional symptom, Myalgia, Abdominal pain ORPHA:188
Drug-Induced Autoimmune Hemolytic Anemia
Fatigue ORPHA:90037
Immunodeficiency 70
Chronic fatigue OMIM:618969
Autoerythrocyte Sensitization Syndrome
Fatigue, Intramuscular hematoma, Arthralgia, Asthenia, Myalgia, Epigastric pain, Pain ORPHA:324636
Kaposi Sarcoma
Fatigue ORPHA:33276
Tick-Borne Encephalitis
Back pain, Skeletal muscle atrophy, Somatic sensory dysfunction, Fatigue, Facial palsy, Limb pain... ORPHA:297
Avian Influenza
Fatigue, Abdominal pain, Rhabdomyolysis, Chest pain, Myalgia ORPHA:454836
Autosomal Dominant Hypophosphatemic Rickets
Fatigue, Bone pain ORPHA:89937
Cystinosis
Fatigue, Myopathy ORPHA:213
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Fatigue, Skeletal muscle atrophy, Exercise intolerance, Limb-girdle muscle weakness, Rhabdomyolys... ORPHA:79240
Aregenerative Anemia
Fatigue, Fatigable weakness of skeletal muscles ORPHA:101096
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Chorea, Cerebral atrophy, Gait ataxia, Neurodegeneration, Left ventricular hypertrophy OMIM:618321
Cinca Syndrome
Fatigue, Arthralgia, Myalgia ORPHA:1451
Alveolar Echinococcosis
Fatigue, Low back pain, Ataxia, Abdominal pain, Abnormal skeletal muscle morphology, Chest pain, ... ORPHA:284
Autosomal Agammaglobulinemia
Fatigue ORPHA:33110
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Fatigue, Chills ORPHA:86884
Primary Myelofibrosis
Fatigue, Flank pain, Constitutional symptom ORPHA:824
Acute Interstitial Pneumonia
Fatigue, Chest pain, Arthralgia, Myalgia ORPHA:79126
Post-Traumatic Pituitary Deficiency
Fatigue ORPHA:95619
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Lead Poisoning
Fatigue, Somatic sensory dysfunction, Abdominal pain, Abdominal cramps, Impairment of activities ... ORPHA:330015
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Gm2-Gangliosidosis, Ab Variant
Chorea, Neurodegeneration, Cerebral atrophy OMIM:272750
Deafness-Lymphedema-Leukemia Syndrome
Fatigue ORPHA:3226
Glucocorticoid Resistance, Generalized
Fatigue OMIM:615962
Glycogen Storage Disease Due To Acid Maltase Deficiency
Fatigue, Exercise intolerance, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes,... ORPHA:365
Ebstein Malformation Of The Tricuspid Valve
Fatigue, Patent ductus arteriosus, Chest pain, Sudden cardiac death ORPHA:1880
Japanese Encephalitis
Fatigue, Skeletal muscle atrophy, Rigors, Facial palsy, Abdominal pain, Elbow flexion contracture... ORPHA:79139
Acute Transverse Myelitis
Impaired vibratory sensation, Back pain, Somatic sensory dysfunction, Fatigue, Urinary incontinen... ORPHA:139417
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Axonal degeneration, Neurodegeneration, Global brain atrophy ORPHA:478029
X-Linked Agammaglobulinemia
Fatigue ORPHA:47
Gitelman Syndrome
Fatigue, Ataxia, Abdominal pain, Rhabdomyolysis, Arthralgia, Paresthesia OMIM:263800
Botulism
Fatigue, Abdominal pain ORPHA:1267
Autoimmune Hemolytic Anemia, Warm Type
Fatigue, Arthralgia ORPHA:90033
Mixed Connective Tissue Disease
Fatigue, Myositis, Arthralgia, Myalgia, Chest pain ORPHA:809
Herpes Simplex Virus Encephalitis
Fatigue, Chills ORPHA:1930
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Acute rhabdomyolysis, Rhabdomyolysis, Cerebral atrophy, Gait ataxia, Neurodegeneration OMIM:616878
Symptomatic Form Of Hfe-Related Hemochromatosis
Fatigue, Decreased muscle mass, Arthralgia, Abdominal pain ORPHA:465508
Barth Syndrome
Fatigue, Skeletal myopathy, Exercise intolerance OMIM:302060
Iatrogenic Botulism
Fatigue ORPHA:254509
Multiple System Atrophy 1, Susceptibility To
Neurodegeneration, Skeletal muscle atrophy, Ataxia, Urinary incontinence OMIM:146500
Parkinson Disease 20, Early-Onset
Fatigue, Cerebral cortical atrophy, Leg muscle stiffness OMIM:615530
Congenital Isolated Acth Deficiency
Fatigue ORPHA:199296
Atrial Septal Defect, Sinus Venosus Type
Fatigue, Exercise intolerance ORPHA:99105
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Fatigue, Achilles tendon calcification OMIM:617994
Acute Promyelocytic Leukemia
Fatigue, Gangrene, Bone pain, Abdominal pain ORPHA:520
Cyclic Neutropenia
Fatigue, Bone pain, Abdominal pain ORPHA:2686
Inhalational Botulism
Fatigue ORPHA:254504
Vexas Syndrome
Fatigue, Night sweats, Arthralgia OMIM:301054
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Scapular winging, Ataxia, Distal amyotrophy, Neurodegeneration OMIM:614298
Idiopathic Pulmonary Hemosiderosis
Fatigue ORPHA:99931
Peripartum Cardiomyopathy
Left ventricular hypertrophy, Fatigue, Chest pain, Abdominal pain ORPHA:563
Reynolds Syndrome
Fatigue, Myalgia ORPHA:779
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fatigue, Skeletal muscle atrophy, Exercise intolerance, Increased sarcoplasmic glycogen, Myalgia ORPHA:264580
Erythrocytosis, Familial, 2
Fatigue OMIM:263400
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Fatigue, Bone pain ORPHA:324964
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Back pain, Bilateral camptodactyly, Fatigue OMIM:619234
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Fatigue ORPHA:263455
Car T Cell Therapy-Associated Cytokine Release Syndrome
Fatigue, Myalgia ORPHA:542323
Acth-Independent Macronodular Adrenal Hyperplasia 2
Fatigue OMIM:615954
Klatskin Tumor
Fatigue, Abdominal pain ORPHA:99978
Malignant Atrophic Papulosis
Fatigue, Pain insensitivity, Chest pain, Abdominal pain ORPHA:679
Inhalational Anthrax
Fatigue ORPHA:247257
Bone Marrow Failure Syndrome 6
Myalgia, Chronic fatigue OMIM:618849
Solitary Fibrous Tumor
Fatigue, Low back pain, Night sweats ORPHA:2126
Lynch Syndrome
Fatigue, Flexion contracture, Paresthesia, Abdominal pain ORPHA:144
Poems Syndrome
Fatigue, Pain, Paresthesia, Hyperesthesia ORPHA:2905
Cardiac-Valvular Ehlers-Danlos Syndrome
Left ventricular hypertrophy, Fatigue, Tendon rupture ORPHA:230851
Refractory Anemia With Excess Blasts
Fatigue, Bone pain ORPHA:86839
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Acute Panmyelosis With Myelofibrosis
Fatigue, Low back pain ORPHA:86843
Immunodeficiency 97 With Autoinflammation
Fatigue, Abdominal pain OMIM:619802
Simple Cryoglobulinemia
Fatigue, Abdominal pain, Arthralgia, Paresthesia, Spontaneous pain sensation ORPHA:91139
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Familial Colorectal Cancer Type X
Fatigue, Flexion contracture, Paresthesia, Abdominal pain ORPHA:440437
Congenital Disorder Of Glycosylation, Type It
Fatigue, Rhabdomyolysis, Sudden cardiac death, Exercise intolerance OMIM:614921
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Chronic Myeloid Leukemia
Fatigue ORPHA:521
Acute Monoblastic/Monocytic Leukemia
Fatigue ORPHA:514
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Sporadic Pheochromocytoma/Secreting Paraganglioma
Fatigue, Chest pain, Episodic abdominal pain ORPHA:276621
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy, Resting tremor, Head tremor ORPHA:314404
Cystic Echinococcosis
Fatigue, Epigastric pain, Abnormality of the diaphragm ORPHA:400
Juvenile Dermatomyositis
Calcinosis, Fatigue, Myositis, Abdominal pain, Arthralgia, Myalgia ORPHA:93672
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Congenital Gerbode Defect
Fatigue, Chest pain, Right ventricular hypertrophy ORPHA:99095
Igg4-Related Retroperitoneal Fibrosis
Fatigue, Low back pain, Abdominal pain, Flank pain, Renal tubular epithelial necrosis, Pain ORPHA:49041
Hennekam-Beemer Syndrome
Fatigue, Camptodactyly of finger, Abdominal pain ORPHA:2135
Abnormal Hair, Joint Laxity, And Developmental Delay
Fatigue, Lower limb pain OMIM:261990
Macs Syndrome
Fatigue OMIM:613075
Generalized Pustular Psoriasis
Fatigue, Pain, Arthralgia ORPHA:247353
Listeriosis
Back pain, Fatigue, Somatic sensory dysfunction, Ataxia, Abdominal pain, Rhabdomyolysis, Arthralg... ORPHA:533
Congenital Dyserythropoietic Anemia Type Iii
Fatigue ORPHA:98870
Hereditary Xanthinuria
Myopathy, Flank pain, Chronic fatigue ORPHA:3467
Systemic Mastocytosis With Associated Hematologic Neoplasm
Fatigue, Abdominal pain, Bone pain, Arthralgia, Myalgia ORPHA:98849
Waldenström Macroglobulinemia
Fatigue, Ataxia ORPHA:33226
Septo-Optic Dysplasia Spectrum
Fatigue ORPHA:3157
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Neurodegeneration, Ataxia OMIM:618476
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Acute Radiation Syndrome
Fatigue ORPHA:454831
Hellp Syndrome
Back pain, Shoulder pain, Fatigue, Abdominal pain, Epigastric pain ORPHA:244242
Functioning Gonadotropic Adenoma
Fatigue ORPHA:91348
Shigellosis
Fatigue, Abdominal pain, Rhabdomyolysis, Asthenia, Abdominal cramps ORPHA:810
3-Hydroxy-3-Methylglutaric Aciduria
Fatigue, Ataxia ORPHA:20
Polycythemia Vera
Fatigue, Arthralgia, Abdominal pain ORPHA:729
Neuroleptic Malignant Syndrome
Fatigue, Rigors, Urinary incontinence, Chorea, Rhabdomyolysis ORPHA:94093
Gamma-Heavy Chain Disease
Fatigue ORPHA:100026
Cerebral Visual Impairment
Central nervous system degeneration, Neurodegeneration ORPHA:447788
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Isolated Right Ventricular Hypoplasia
Fatigue ORPHA:439
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Neurodegeneration With Brain Iron Accumulation 1
Decreased muscle mass, Ataxia, Urinary incontinence, Choreoathetosis, Myopathy, Neurodegeneration... OMIM:234200
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Autoimmune Pulmonary Alveolar Proteinosis
Fatigue, Chest pain ORPHA:747
Granulomatosis With Polyangiitis
Fatigue, Gangrene, Asthenia, Myalgia OMIM:608710
Erdheim-Chester Disease
Fatigue, Bone pain, Ataxia, Abdominal pain ORPHA:35687
Steinert Myotonic Dystrophy
Fatigue, Skeletal muscle atrophy, Fatigable weakness of bulbar muscles, Abnormality of the tongue... ORPHA:273
Overhydrated Hereditary Stomatocytosis
Fatigue OMIM:185000
Al Amyloidosis
Fatigue, Macroglossia ORPHA:85443
Hereditary Pheochromocytoma-Paraganglioma
Fatigue, Chest pain, Episodic abdominal pain ORPHA:29072
Autoimmune Hepatitis
Arthralgia, Chronic fatigue, Abdominal pain ORPHA:2137
Late-Onset Isolated Acth Deficiency
Fatigue, Arthralgia, Abdominal pain ORPHA:199299
Resistance To Thyrotropin-Releasing Hormone Syndrome
Fatigue ORPHA:99832
Mucopolysaccharidosis, Type Ii
Macroglossia, Flexion contracture, Neurodegeneration OMIM:309900
Castleman Disease
Fatigue, Flank pain, Constitutional symptom, Abdominal pain ORPHA:160
Pituitary Apoplexy
Fatigue, Trigeminal neuralgia ORPHA:95613
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Fatigue ORPHA:300298
Dopamine Beta-Hydroxylase Deficiency
Fatigue, Chest pain ORPHA:230
Xeroderma Pigmentosum
Fatigue, Arthralgia, Ataxia, Cerebral cortical atrophy ORPHA:910
Chediak-Higashi Syndrome
Neurodegeneration, Ataxia, Foot dorsiflexor weakness OMIM:214500
Behçet Disease
Fatigue, Myositis, Ataxia, Abdominal pain, Arthralgia, Paresthesia, Myalgia, Gangrene ORPHA:117
Non-Functioning Pituitary Adenoma
Fatigue ORPHA:91349
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Renal Nutcracker Syndrome
Fatigue, Flank pain, Abdominal pain ORPHA:71273
Lymphoid Interstitial Pneumonia
Fatigue ORPHA:79128
Carney Triad
Fatigue, Abdominal pain, Leiomyosarcoma ORPHA:139411
Kufor-Rakeb Syndrome
Fatigue, Urinary incontinence, Bowel incontinence, Leg muscle stiffness, Cerebral cortical atroph... ORPHA:306674
Mucopolysaccharidosis, Type Vii
Macroglossia, Flexion contracture, Neurodegeneration, Diastasis recti OMIM:253220
Hypocalciuric Hypercalcemia, Familial, Type Iii
Fatigue, Bone pain OMIM:600740
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Multiple Myeloma
Fatigue, Bone pain, Paresthesia ORPHA:29073
Hughes-Stovin Syndrome
Fatigue, Chest pain ORPHA:228116
Chikungunya
Fatigue, Shoulder pain, Arthralgia, Paresthesia, Myalgia, Chills, Knee pain ORPHA:324625
Isolated Thyroid-Stimulating Hormone Deficiency
Fatigue, Macroglossia ORPHA:90674
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Gaucher Disease Type 3
Fatigue, Bone pain, Ataxia ORPHA:77261
Hurler Syndrome
Macroglossia, Flexion contracture, Neurodegeneration OMIM:607014
Menkes Disease
Fatigue, Chorea, Aplasia/Hypoplasia of the abdominal wall musculature ORPHA:565
Q Fever
Fatigue, Night sweats, Myalgia ORPHA:781
Congenital Analbuminemia
Fatigue ORPHA:86816
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Fatigue, Torticollis, Ataxia, Abdominal pain, Neurodegeneration OMIM:619475
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration ORPHA:79244
Prolactinoma
Fatigue ORPHA:2965
Primary Hepatic Neuroendocrine Carcinoma
Night sweats, Chronic fatigue, Episodic abdominal pain ORPHA:100085
Tay-Sachs Disease
Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia ORPHA:845
Pulmonary Alveolar Microlithiasis
Fatigable weakness, Fatigue, Chest pain ORPHA:60025
Arterial Tortuosity Syndrome
Fatigue ORPHA:3342
Stevens-Johnson Syndrome
Fatigue, Sudden cardiac death, Abdominal pain ORPHA:36426
Atrial Septal Defect, Ostium Primum Type
Left ventricular hypertrophy, Fatigue, Exercise intolerance ORPHA:99106
Toxic Epidermal Necrolysis
Fatigue, Sudden cardiac death, Abdominal pain ORPHA:537
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Fatigue, Arthralgia, Myalgia ORPHA:183675
Primary Sjögren Syndrome
Fatigue, Myositis, Somatic sensory dysfunction, Chorea, Chronic pain, Arthralgia, Myalgia ORPHA:289390
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Immunodeficiency 58
Fatigue OMIM:618131
Acute Adrenal Insufficiency
Fatigue, Arthralgia, Abdominal pain ORPHA:95409
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Fatigue, Abdominal pain ORPHA:567546
Sandhoff Disease
Exaggerated startle response OMIM:268800
Fabry Disease
Fatigue, Abdominal pain, Arthralgia, Myalgia, Left ventricular hypertrophy ORPHA:324
Immunodeficiency 31C
Fatigue, Skeletal muscle atrophy OMIM:614162
Gaucher Disease
Fatigue, Ataxia, Abdominal pain, Bone pain, Arthralgia, Arthrogryposis multiplex congenita ORPHA:355
Granulomatosis With Polyangiitis
Fatigue, Abdominal pain, Chest pain, Arthralgia, Myalgia, Gangrene ORPHA:900
Hermansky-Pudlak Syndrome
Fatigue, Abdominal pain ORPHA:79430
Familial Glucocorticoid Deficiency
Chronic fatigue, Episodic abdominal pain ORPHA:361
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Primary Biliary Cholangitis
Fatigue ORPHA:186
Kikuchi-Fujimoto Disease
Fatigue, Ataxia, Night sweats, Arthralgia, Myalgia, Chills ORPHA:50918
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Pancreatic Triacylglycerol Lipase Deficiency
Fatigue, Abdominal pain ORPHA:309031
Malt Lymphoma
Fatigue, Abdominal pain ORPHA:52417
Hemorrhagic Fever-Renal Syndrome
Back pain, Fatigue, Abdominal pain, Myalgia, Chills ORPHA:340
Brucellosis
Fatigue, Abdominal pain, Chorea, Arthralgia, Asthenia, Chills ORPHA:1304
Dermatomyositis
Fatigue, Inflammatory myopathy, Arthralgia, Myalgia, Gangrene ORPHA:221
Gastrointestinal Stromal Tumor
Fatigue ORPHA:44890
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Primary Sclerosing Cholangitis
Fatigue, Generalized amyotrophy, Abdominal pain ORPHA:171
Loeys-Dietz Syndrome 6
Arthralgia, Chronic fatigue OMIM:619656
Dehydrated Hereditary Stomatocytosis
Episodic fatigue, Abdominal pain ORPHA:3202
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Fatigue, Arthralgia ORPHA:562639
Hyperparathyroidism-Jaw Tumor Syndrome
Fatigue, Bone pain, Mandibular pain, Episodic abdominal pain ORPHA:99880
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Fatigue ORPHA:293978
Sheehan Syndrome
Chills, Arthralgia, Chronic fatigue ORPHA:91355
Atrial Septal Defect, Coronary Sinus Type
Fatigue, Exercise intolerance ORPHA:99104
Parathyroid Carcinoma
Fatigue, Bone pain, Mandibular pain, Episodic abdominal pain ORPHA:143
Coccidioidomycosis
Fatigue, Chest pain, Myalgia ORPHA:228123
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Exercise-Induced Malignant Hyperthermia
Fatigue, Rhabdomyolysis, Ataxia ORPHA:466650
Zygomycosis
Fatigue, Pain, Chest pain, Abdominal pain ORPHA:73263
Wiskott-Aldrich Syndrome
Fatigue, Chest pain, Sudden cardiac death ORPHA:906
Insulin-Resistance Syndrome Type B
Fatigue ORPHA:2298
Niemann-Pick Disease Type C
Axial dystonia, Dystonia, Tremor, Narcolepsy, Limb dystonia, Intention tremor ORPHA:646
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Familial Pancreatic Carcinoma
Back pain, Chronic fatigue, Abdominal pain ORPHA:1333
Lymphangioleiomyomatosis
Fatigue, Chest pain, Abdominal pain ORPHA:538
Gallbladder Neuroendocrine Tumor
Chronic fatigue, Episodic abdominal pain ORPHA:100086
Nocardiosis
Fatigue, Ocular pain, Night sweats, Chest pain, Chills ORPHA:31204
Lymphatic Filariasis
Fatigue, Pain ORPHA:2035
Acromegaly
Fatigue, Macroglossia, Arthralgia, Paresthesia ORPHA:963
Somatomammotropinoma
Fatigue, Macroglossia, Arthralgia, Paresthesia ORPHA:314769
Secondary Intestinal Lymphangiectasia
Fatigue, Abdominal colic ORPHA:90363
Addison Disease
Fatigue, Arthralgia, Abdominal pain ORPHA:85138
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Fatigue, Macroglossia ORPHA:226307
Laubry-Pezzi Syndrome
Left ventricular hypertrophy, Patent ductus arteriosus, Chest pain, Fatigue ORPHA:99094
African Trypanosomiasis
Fatigue, Rigors, Somatic sensory dysfunction, Urinary incontinence, Impaired proprioception, Chor... ORPHA:3385
Gaisböck Syndrome
Fatigue, Epigastric pain ORPHA:90041
Tubulointerstitial Nephritis And Uveitis Syndrome
Fatigue, Abdominal pain, Flank pain, Ocular pain, Renal tubular epithelial necrosis, Arthralgia, ... ORPHA:91500
Kawasaki Disease
Fatigue, Arthralgia, Abdominal pain ORPHA:2331
Infection-Related Hemolytic Uremic Syndrome
Fatigue, Abdominal cramps, Abdominal pain ORPHA:544482
Atrial Septal Defect, Ostium Secundum Type
Fatigue, Exercise intolerance ORPHA:99103
Selective Igm Deficiency