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 4.42×10-05

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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.0%
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 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
rib pre-cartilage condensation 1.75% (1 of 57)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Adult LacZ

LacZ Images Section

20 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Forepaw

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

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

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
Angulated muscle fibers, Fatigue, Weakness of facial musculature, Scapular winging, Shoulder gird... OMIM:619477
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Macrophagic Myofasciitis
Arthralgia, Fatigue, Myalgia ORPHA:592
Pontiac Fever
Fatigue, Myalgia ORPHA:99748
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Increased variability in muscle fiber diameter, EMG: myopathic abnormalit... OMIM:253601
Genetic Hyperferritinemia Without Iron Overload
Arthralgia, Fatigue ORPHA:254704
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Diaminopentanuria
Ataxia, Neurodegeneration OMIM:222350
Tremor, Hereditary Essential, 2
Fatigue OMIM:602134
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Ataxia, Neurodegeneration OMIM:615889
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Skeletal muscle atrophy, Fatigable weakness of bulbar muscles, Pain, Fatiga... ORPHA:803
Autosomal Dominant Spastic Paraplegia Type 37
Lower limb muscle weakness, Fatigue, Impaired vibration sensation in the lower limbs, Degeneratio... ORPHA:171612
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Cerebellar atrophy, Ataxia, Neurodegeneration OMIM:610951
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, Generalized amyotrophy, Increased variability in muscle fiber dia... OMIM:619178
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Fatigue, Facial palsy OMIM:616323
Myopathy, Centronuclear, 4
Fatigue, Myalgia, Centrally nucleated skeletal muscle fibers OMIM:614807
Tuberculosis
Fatigue ORPHA:3389
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dysmetria, Ataxia, Gait ataxia, Fatigue, Dysdiadochokinesis OMIM:614831
Mantle Cell Lymphoma
Fatigue ORPHA:52416
Combined Oxidative Phosphorylation Deficiency 28
Abdominal pain, Fatigue, Ragged-red muscle fibers OMIM:616794
Creatine Phosphokinase, Elevated Serum
Inflammatory myopathy, Muscular dystrophy, EMG: myopathic abnormalities, Fatigue, Myopathy, Myalg... OMIM:123320
Cholangiocarcinoma
Abdominal pain, Fatigue ORPHA:70567
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Fatigue, Muscular dystrophy, Skeletal muscle hypertrophy OMIM:613157
Adiposis Dolorosa
Arthralgia, Fatigue, Chronic pain OMIM:103200
Hypothyroidism, Congenital, Nongoitrous, 7
Fatigue OMIM:618573
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Cerebellar atrophy, Congenital diaphragmatic hernia, Neurodegeneration ORPHA:438134
Narcolepsy 3
Narcolepsy OMIM:609039
Narcolepsy 1
Narcolepsy OMIM:161400
Hodgkin Lymphoma
Bone pain, Fatigue, Ataxia, Chest pain ORPHA:98293
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Neurodegeneration, Skeletal muscle atrophy, Atax... OMIM:615157
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Fatigue ORPHA:79283
Myasthenic Syndrome, Congenital, 21, Presynaptic
Fatigue, Facial palsy, Knee flexion contracture OMIM:617239
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Neurodegeneration, A... OMIM:612319
Narcolepsy 7
Narcolepsy OMIM:614250
Congenital Myasthenic Syndromes With Glycosylation Defect
Flexion contracture, Ragged-red muscle fibers, Limb-girdle muscle weakness, Generalized weakness ... ORPHA:353327
Hyperinsulinism Due To Glucokinase Deficiency
Fatigue ORPHA:79299
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral atrophy, Cerebellar atrophy, Ataxia, Cerebral cortical atrophy, Chorea, Neurodegeneration OMIM:617672
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Undifferentiated Pleomorphic Sarcoma
Fatigue ORPHA:2023
Eosinophilic Fasciitis
Myositis, Paresthesia, Fatigue, Myalgia, Muscular edema, Arthralgia ORPHA:3165
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cerebral atrophy, Ragged-red muscle fibers, EMG: myopathic abnormalities, Sensory ataxia, Limb mu... OMIM:609286
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Chest pain, Ragged-red muscle fibers, Ataxia, Fatigue, Myalgia, Lower limb pain ORPHA:1349
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Skeletal muscle atrophy, Fatigable weakness of neck muscles, Ataxia, Exerc... ORPHA:42
Hyperinsulinism Due To Insr Deficiency
Fatigue ORPHA:263458
Methylmalonic Acidemia With Homocystinuria
Fatigue ORPHA:26
Pediatric Hepatocellular Carcinoma
Abdominal pain, Hepatic necrosis, Fatigue, Epigastric pain ORPHA:33402
Thymic Carcinoma
Fatigable weakness, Fatigue, Chest pain ORPHA:99868
Sengers Syndrome
Fatigue, Myopathy OMIM:212350
Familial Cold Urticaria
Abdominal pain, Dysesthesia, Fatigue, Myalgia, Arthralgia ORPHA:47045
Autoimmune Hemolytic Anemia, Cold Type
Fatigue ORPHA:228312
Atypical Juvenile Parkinsonism
Leg muscle stiffness, Gait ataxia, Fatigue, Hypomimic face, Brain atrophy ORPHA:391411
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Fatigue, Diffuse cerebral atrophy ORPHA:314632
Autosomal Dominant Optic Atrophy, Classic Form
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Skeletal muscle atrophy, Ataxia... ORPHA:98673
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Exercise-induced myalgia, Fatigue, Increased muscle glyc... ORPHA:368
Thyroid Hemiagenesis
Fatigue, Macroglossia ORPHA:95719
Postpoliomyelitis Syndrome
Skeletal muscle atrophy, Pain, Fatigue, Myalgia, Arthralgia ORPHA:2942
Liposarcoma
Paresthesia, Abdominal pain, Fatigue ORPHA:69078
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bone pain, Increased cerebral lipofuscin, Chronic fatigue OMIM:610539
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cerebellar atrophy, Ataxia, Limb muscle weakness, Gait ataxia, Fatigue, Dysesthesia, Truncal atax... OMIM:619259
Myofibrillar Myopathy 10
EMG: myopathic abnormalities, Ankle flexion contracture, Knee flexion contracture, Myalgia, Flexi... OMIM:619040
Mitochondrial Myopathy With Lactic Acidosis
Fatigue, Dysmetria OMIM:251950
Athyreosis
Fatigue, Macroglossia ORPHA:95713
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Achilles tendon contracture, Skeletal muscle atrophy, Ragged-red muscle fibers, EMG: myopathic ab... OMIM:615418
Spastic Paraplegia 79, Autosomal Recessive
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Flexion contracture, Ataxia, Neurodegeneration OMIM:615491
Mucolipidosis Type Iii
Fatigue ORPHA:577
Spontaneous Periodic Hypothermia
Fatigue, Ataxia ORPHA:29822
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in upper limbs, Atrophy of the spinal cord, Proximal upper limb amyotrop... ORPHA:466768
Coenzyme Q10 Deficiency, Primary, 1
Fatigue, Cerebellar atrophy, Ataxia, Ragged-red muscle fibers OMIM:607426
Autosomal Dominant Optic Atrophy Plus Syndrome
Limb-girdle muscle weakness, Fatigue, Myopathy, Ataxia ORPHA:1215
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Fatigable weakness, Myopathy, Fatigue ORPHA:257
Neurodegeneration With Brain Iron Accumulation 5
Cerebral atrophy, Cerebellar atrophy, Neurodegeneration OMIM:300894
Neurodegeneration With Brain Iron Accumulation 6
Neurodegeneration, Distal amyotrophy OMIM:615643
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Fatigue ORPHA:86893
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Myopathy, Chronic fatigue, Myalgia, Weakness of facial musculature, Spin... ORPHA:254875
Myxedema
Paresthesia, Fatigue OMIM:255900
Combined Oxidative Phosphorylation Deficiency 33
Fatigue, Left ventricular hypertrophy, Myopathy OMIM:617713
Analbuminemia
Fatigue, Patent ductus arteriosus OMIM:616000
Dopa-Responsive Dystonia
Fatigable weakness, Urinary incontinence, Fatigue, Pain ORPHA:255
Arachnoiditis
Arthralgia, Fatigue, Paresthesia ORPHA:137817
Porphyria
Chest pain, Paresthesia, Abdominal pain, Fatigue, Dupuytren contracture ORPHA:738
Typhoid
Ataxia, Abdominal pain, Fatigue, Myalgia, Arthralgia ORPHA:99745
Schnitzler Syndrome
Bone pain, Fatigue, Myalgia, Arthralgia ORPHA:37748
Classical-Like Ehlers-Danlos Syndrome Type 1
Arthralgia, Fatigue, Myalgia, Skeletal muscle atrophy ORPHA:230839
Pfapa Syndrome
Arthralgia, Abdominal pain, Fatigue ORPHA:42642
Classic Hodgkin Lymphoma
Bone pain, Fatigue, Ataxia, Chest pain ORPHA:391
Familial Cold Autoinflammatory Syndrome 1
Arthralgia, Fatigue, Chills, Myalgia OMIM:120100
Poliomyelitis
Impairment of activities of daily living, Abnormal skeletal muscle morphology, Lower limb muscle ... ORPHA:2912
Unclassified Myelodysplastic Syndrome
Fatigue, Night sweats ORPHA:98827
X-Linked Sideroblastic Anemia
Fatigue ORPHA:75563
Laryngeal Neuroendocrine Tumor
Chronic fatigue ORPHA:100083
Adrenoleukodystrophy
Lower limb muscle weakness, Truncal ataxia, Limb ataxia, Neurodegeneration, Urinary incontinence,... OMIM:300100
Immunodeficiency, Common Variable, 11
Fatigue OMIM:615767
Follicular Lymphoma
Fatigue, Night sweats ORPHA:545
Barth Syndrome
Fatigue, Skeletal myopathy OMIM:302060
Intellectual Developmental Disorder, Autosomal Dominant 35
Gait ataxia, Fatigue, Facial hypotonia, Congenital muscular torticollis OMIM:616355
Hyperimmunoglobulin G1(A1) Syndrome
Chronic fatigue OMIM:144120
Hypotonia-Cystinuria Syndrome
Fatigue ORPHA:163690
Becker Muscular Dystrophy
Fatigue, Myalgia, Skeletal muscle atrophy ORPHA:98895
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Chronic fatigue OMIM:234810
Hemochromatosis, Type 4
Arthralgia, Fatigue OMIM:606069
Adrenomyeloneuropathy
Leg muscle stiffness, Atrophy of the spinal cord, Impaired continence, Axonal degeneration, Back ... ORPHA:139399
Babesiosis
Arthralgia, Fatigue, Myalgia ORPHA:108
Hepatitis, Fulminant Viral, Susceptibility To
Fatigue OMIM:618549
Intellectual Disability And Myopathy Syndrome
Achilles tendon contracture, Fatigue OMIM:619719
Lyme Disease
Arthralgia, Fatigue, Myalgia, Paresthesia ORPHA:91546
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fatigue ORPHA:276608
Glucocorticoid Resistance, Generalized
Fatigue OMIM:615962
Nipah Virus Disease
Fatigue, Myalgia ORPHA:99825
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Cerebellar atrophy, Ataxia, Neurodegeneration, Neuronal loss in central nervous... OMIM:256600
Spinal Arteriovenous Metameric Syndrome
Gangrene, Fatigue, Bone pain, Arthralgia ORPHA:53721
Liddle Syndrome
Fatigue ORPHA:526
Brain Dopamine-Serotonin Vesicular Transport Disease
Fatigue, Dysdiadochokinesis, Ataxia, Hypomimic face ORPHA:352649
Takayasu Arteritis
Gangrene, Chest pain, Fatigue, Myalgia, Arthralgia ORPHA:3287
Mast Cell Sarcoma
Fatigue ORPHA:66661
Carnitine Palmitoyl Transferase 1A Deficiency
Fatigue, Sudden cardiac death, Skeletal muscle atrophy ORPHA:156
Mal De Débarquement
Fatigue ORPHA:210272
Rheumatic Fever
Chest pain, Abdominal pain, Fatigue, Aplasia/Hypoplasia of the abdominal wall musculature, Chorea... ORPHA:3099
Atrial Standstill
Left ventricular noncompaction, Flexion contracture, Skeletal muscle atrophy, Muscular dystrophy,... ORPHA:1344
Multiple Epiphyseal Dysplasia Type 1
Knee pain, Postexertional malaise, Ankle pain ORPHA:93308
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Arthralgia, Fatigue, Myositis ORPHA:69126
Paroxysmal Nocturnal Hemoglobinuria 2
Arthralgia, Abdominal pain, Fatigue OMIM:615399
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Knee pain, Postexertional malaise, Myopathy ORPHA:166002
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Skeletal muscle atrophy, Neuronal loss in central nervous system, Myopathy, N... OMIM:616239
Primary Familial Polycythemia
Arthralgia, Abdominal pain, Fatigue ORPHA:90042
Neurodegeneration With Brain Iron Accumulation 3
Choreoathetosis, Hypomimic face, Ataxia, Chorea, Neurodegeneration OMIM:606159
Hemochromatosis, Type 3
Fatigue OMIM:604250
Pulmonary Hypertension, Primary, 5
Fatigue, Right ventricular hypertrophy OMIM:265400
Kufor-Rakeb Syndrome
Leg muscle stiffness, Ataxia, Fatigue, Distal sensory impairment, Torticollis OMIM:606693
Alpha-Thalassemia-Myelodysplastic Syndrome
Fatigue ORPHA:231401
Osteopetrosis, Autosomal Dominant 3
Asthenia, Fatigue OMIM:618107
Cold Agglutinin Disease
Arthralgia, Fatigue, Back pain ORPHA:56425
Satoyoshi Syndrome
Fatigue, Skeletal muscle hypertrophy OMIM:600705
Autosomal Dominant Dopa-Responsive Dystonia
Progressive flexion contractures, Impaired vibration sensation in the lower limbs, Ataxia, Gait a... ORPHA:98808
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Angiostrongyliasis
Hyperesthesia, Pain, Paresthesia, Abdominal pain, Fatigue, Myalgia, Arthralgia, Neck pain ORPHA:74
Autoinflammation With Infantile Enterocolitis
Arthralgia, Fatigue, Myalgia OMIM:616050
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Fatigue, Ataxia ORPHA:927
Idiopathic/Heritable Pulmonary Arterial Hypertension
Chest pain, Fatigue ORPHA:422
Rheumatoid Arthritis
Arthralgia, Fatigue, Digital flexor tenosynovitis OMIM:180300
Corticosteroid-Binding Globulin Deficiency
Fatigue OMIM:611489
Hsd10 Disease, Infantile Type
Cerebral atrophy, Choreoathetosis, Diffuse cerebral atrophy, Neurodegeneration, Frontotemporal ce... ORPHA:391428
Myotonia Fluctuans
Fatigue, Spasticity of facial muscles, Myalgia ORPHA:99734
New-Onset Refractory Status Epilepticus
Global brain atrophy, Fatigue ORPHA:363558
Dubin-Johnson Syndrome
Abdominal pain, Fatigue ORPHA:234
Hyperprolinemia Type 2
Abdominal pain, Dysesthesia, Distal sensory impairment, Chronic fatigue, Myalgia ORPHA:79101
Krabbe Disease
Diffuse cerebral atrophy, Neurodegeneration OMIM:245200
Insulinoma
Paresthesia, Fatigue, Abnormality of pain sensation ORPHA:97279
Benign Recurrent Intrahepatic Cholestasis
Abdominal pain, Fatigue ORPHA:65682
Leishmaniasis
Arthralgia, Fatigue, Night sweats ORPHA:507
Isolated Agammaglobulinemia
Fatigue ORPHA:229717
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Flexion contracture, Ataxia, Neurodegeneration OMIM:615919
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Cerebral atrophy, Chorea, Neurodegeneration OMIM:618321
Refractory Anemia
Fatigue ORPHA:98826
Cryptogenic Organizing Pneumonia
Arthralgia, Fatigue, Night sweats, Chest pain ORPHA:1302
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Head tremor, Resting tremor, Narcolepsy ORPHA:314404
Polymyositis
Abdominal pain, Fatigue, Myalgia, Arthralgia, Abnormal muscle fiber morphology ORPHA:732
Anisocoria
Fatigue OMIM:106240
Whipple Disease
Chest pain, Myositis, Ataxia, Abdominal pain, Fatigue, Myalgia, Arthralgia ORPHA:3452
Cholestasis-Lymphedema Syndrome
Bone pain, Abdominal pain, Fatigue ORPHA:1414
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Fatigue, Flexion contracture ORPHA:98791
Adiposis Dolorosa
Arthralgia, Fatigue, Paresthesia ORPHA:36397
Non-Functioning Paraganglioma
Fatigue, Episodic abdominal pain, Chest pain ORPHA:94080
Legionnaires Disease
Chest pain, Ataxia, Abdominal pain, Fatigue, Myalgia, Arthralgia ORPHA:549
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Chorea, Neurodegeneration ORPHA:309246
Proximal Spinal Muscular Atrophy
Flexion contracture, Multiple joint contractures, Skeletal muscle atrophy, Knee flexion contractu... ORPHA:70
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Left ventricular hypertrophy, Ragged-red muscle fibers, EMG: myopathic abnorm... ORPHA:254892
Pituicytoma
Fatigue ORPHA:251623
Aggressive Systemic Mastocytosis
Constitutional symptom, Abdominal pain, Fatigue, Arthralgia, Bone pain, Abdominal cramps ORPHA:98850
Autoimmune Hemolytic Anemia
Abdominal pain, Fatigue ORPHA:98375
Mixed-Type Autoimmune Hemolytic Anemia
Arthralgia, Fatigue ORPHA:90036
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Fatigue, Pain insensitivity, Scapular winging, Patent ductus arteriosus OMIM:617061
Cronkhite-Canada Syndrome
Abdominal pain, Fatigue ORPHA:2930
Progressive Supranuclear Palsy
Neuronal loss in central nervous system, Abnormal synaptic transmission, Cerebral cortical atrophy ORPHA:683
Neurodegeneration With Brain Iron Accumulation 2B
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Neurodegeneration, Gait ataxia, Chorea, Dysdiado... OMIM:610217
Muckle-Wells Syndrome
Arthralgia, Chronic fatigue, Myalgia OMIM:191900
Fixed Drug Eruption
Fatigue, Chills ORPHA:293812
Relapsing Fever
Chills, Abdominal pain, Fatigue, Myalgia, Arthralgia ORPHA:91547
Glioblastoma
Fatigue ORPHA:360
Erythrocytosis, Familial, 1
Fatigue OMIM:133100
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Postexertional malaise ORPHA:369
Evans Syndrome
Fatigue ORPHA:1959
Giant Cell Arteritis
Gangrene, Sudden cardiac death, Ataxia, Paresthesia, Abdominal pain, Fatigue, Myalgia, Arthralgia ORPHA:397
Eosinophilic Granulomatosis With Polyangiitis
Central nervous system degeneration, Myositis, Abdominal pain, Fatigue, Myalgia, Arthralgia ORPHA:183
Adult-Onset Still Disease
Arthralgia, Abdominal pain, Fatigue, Myalgia ORPHA:829
Congenital Fiber-Type Disproportion Myopathy
Foot dorsiflexor weakness, Flexion contracture, Elbow flexion contracture, Fatigable weakness of ... ORPHA:2020
Postorgasmic Illness Syndrome
Fatigue ORPHA:279947
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Fatigue OMIM:241150
Drug-Induced Autoimmune Hemolytic Anemia
Fatigue ORPHA:90037
Kaposi Sarcoma
Fatigue ORPHA:33276
Tick-Borne Encephalitis
Somatic sensory dysfunction, Skeletal muscle atrophy, Back pain, Fatigable weakness of respirator... ORPHA:297
Loeffler Endocarditis
Fatigue, Left ventricular hypertrophy, Chest pain ORPHA:75566
Autoerythrocyte Sensitization Syndrome
Pain, Epigastric pain, Asthenia, Fatigue, Intramuscular hematoma, Myalgia, Arthralgia ORPHA:324636
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Chorea, Neurodegeneration OMIM:272750
Thyroid Hypoplasia
Fatigue, Macroglossia ORPHA:95720
Systemic Capillary Leak Syndrome
Constitutional symptom, Abdominal pain, Fatigue, Myalgia ORPHA:188
Acquired Methemoglobinemia
Abdominal pain, Fatigue ORPHA:464453
Alveolar Echinococcosis
Chest pain, Abnormal skeletal muscle morphology, Abnormality of the diaphragm, Ataxia, Epigastric... ORPHA:284
Autosomal Dominant Hypophosphatemic Rickets
Bone pain, Fatigue ORPHA:89937
Portal Hypertension, Noncirrhotic, 2
Fatigue OMIM:619463
Chronic Beryllium Disease
Fatigue ORPHA:133
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Limb-girdle muscle weakness, Fatigue, Myalgia, Increased... ORPHA:370
Cinca Syndrome
Arthralgia, Fatigue, Myalgia ORPHA:1451
Aregenerative Anemia
Fatigue, Fatigable weakness of skeletal muscles ORPHA:101096
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Ataxia, Neurodegeneration, Distal amyotrophy, Scapular winging OMIM:614298
Immunodeficiency 70
Chronic fatigue OMIM:618969
Cystinosis
Fatigue, Myopathy ORPHA:213
Primary Myelofibrosis
Constitutional symptom, Flank pain, Fatigue ORPHA:824
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Fatigue, Chills ORPHA:86884
Acute Transverse Myelitis
Somatic sensory dysfunction, Impaired proprioception, Impaired vibratory sensation, Dissociated s... ORPHA:139417
Autosomal Agammaglobulinemia
Fatigue ORPHA:33110
Acute Interstitial Pneumonia
Arthralgia, Fatigue, Myalgia, Chest pain ORPHA:79126
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Symptomatic Form Of Hemochromatosis Type 1
Arthralgia, Abdominal pain, Decreased muscle mass, Fatigue ORPHA:465508
Gitelman Syndrome
Rhabdomyolysis, Ataxia, Paresthesia, Abdominal pain, Fatigue, Arthralgia OMIM:263800
Autoimmune Hemolytic Anemia, Warm Type
Arthralgia, Fatigue ORPHA:90033
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Limb-girdle muscle weakness, Fatigue, Myalgia, Pelvic gi... ORPHA:79240
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Neurodegeneration OMIM:618476
Deafness-Lymphedema-Leukemia Syndrome
Fatigue ORPHA:3226
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Axonal degeneration, Diffuse cerebellar atrophy, Neurodegeneration ORPHA:478029
Post-Traumatic Pituitary Deficiency
Fatigue ORPHA:95619
Japanese Encephalitis
Choreoathetosis, Rigors, Skeletal muscle atrophy, Chills, Abdominal pain, Fatigue, Myalgia, Dista... ORPHA:79139
Mixed Connective Tissue Disease
Chest pain, Myositis, Fatigue, Myalgia, Arthralgia ORPHA:809
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Limb tremor, Exaggerated startle resp... OMIM:608643
Glycogen Storage Disease Due To Acid Maltase Deficiency
Chronic pain, Flexion contracture, Facial hypotonia, Lower limb muscle weakness, EMG: myopathic a... ORPHA:365
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Fatigue, Achilles tendon calcification OMIM:617994
Botulism
Abdominal pain, Fatigue ORPHA:1267
X-Linked Agammaglobulinemia
Fatigue ORPHA:47
Herpes Simplex Virus Encephalitis
Fatigue, Chills ORPHA:1930
Multiple System Atrophy 1, Susceptibility To
Urinary incontinence, Ataxia, Neurodegeneration, Skeletal muscle atrophy OMIM:146500
Ebstein Malformation Of The Tricuspid Valve
Chest pain, Patent ductus arteriosus, Sudden cardiac death, Fatigue ORPHA:1880
Klatskin Tumor
Abdominal pain, Fatigue ORPHA:99978
Iatrogenic Botulism
Fatigue ORPHA:254509
Congenital Isolated Acth Deficiency
Fatigue ORPHA:199296
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cerebral atrophy, Rhabdomyolysis, Ataxia, Gait ataxia, Neurodegeneration, Acute rhabdomyolysis OMIM:616878
Vexas Syndrome
Arthralgia, Fatigue, Night sweats OMIM:301054
Peripartum Cardiomyopathy
Abdominal pain, Left ventricular hypertrophy, Fatigue, Chest pain ORPHA:563
Cyclic Neutropenia
Bone pain, Abdominal pain, Fatigue ORPHA:2686
Inhalational Botulism
Fatigue ORPHA:254504
Erythrocytosis, Familial, 2
Fatigue OMIM:263400
Reynolds Syndrome
Fatigue, Myalgia ORPHA:779
Acth-Independent Macronodular Adrenal Hyperplasia 2
Fatigue OMIM:615954
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex
Fatigue OMIM:260480
Malignant Atrophic Papulosis
Abdominal pain, Pain insensitivity, Fatigue, Chest pain ORPHA:679
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fatigue, Myalgia, Increased sarcoplasmic glycogen, Skeletal muscle atrophy ORPHA:264580
Poems Syndrome
Hyperesthesia, Fatigue, Pain, Paresthesia ORPHA:2905
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Bone pain, Fatigue ORPHA:324964
Hyperinsulinism Due To Hnf4A Deficiency
Fatigue ORPHA:263455
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Familial Colorectal Cancer Type X
Paresthesia, Abdominal pain, Flexion contracture, Fatigue ORPHA:440437
Simple Cryoglobulinemia
Spontaneous pain sensation, Paresthesia, Abdominal pain, Fatigue, Arthralgia ORPHA:91139
Idiopathic Pulmonary Hemosiderosis
Fatigue ORPHA:99931
Solitary Fibrous Tumor/Hemangiopericytoma
Fatigue, Low back pain, Night sweats ORPHA:2126
Car T Cell Therapy-Associated Cytokine Release Syndrome
Fatigue, Myalgia ORPHA:542323
Lynch Syndrome
Paresthesia, Abdominal pain, Flexion contracture, Fatigue ORPHA:144
Acute Promyelocytic Leukemia
Bone pain, Abdominal pain, Gangrene, Fatigue ORPHA:520
Avian Influenza
Chest pain, Rhabdomyolysis, Abdominal pain, Fatigue, Myalgia ORPHA:454836
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Bilateral camptodactyly, Fatigue, Back pain OMIM:619234
Acute Panmyelosis With Myelofibrosis
Fatigue, Low back pain ORPHA:86843
Chronic Myeloid Leukemia
Fatigue ORPHA:521
Jervell And Lange-Nielsen Syndrome
Postexertional malaise ORPHA:90647
Refractory Anemia With Excess Blasts
Bone pain, Fatigue ORPHA:86839
Atrial Septal Defect, Sinus Venosus Type
Fatigue ORPHA:99105
Bone Marrow Failure Syndrome 6
Chronic fatigue, Myalgia OMIM:618849
Acute Monoblastic/Monocytic Leukemia
Fatigue ORPHA:514
Cystic Echinococcosis
Abnormality of the diaphragm, Fatigue, Epigastric pain ORPHA:400
Sporadic Pheochromocytoma/Secreting Paraganglioma
Fatigue, Episodic abdominal pain, Chest pain ORPHA:276621
Mastocytosis
Fatigue, Impaired temperature sensation ORPHA:98292
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Inhalational Anthrax
Fatigue ORPHA:247257
Cardiac-Valvular Ehlers-Danlos Syndrome
Tendon rupture, Fatigue, Left ventricular hypertrophy ORPHA:230851
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Juvenile Dermatomyositis
Myositis, Abdominal pain, Fatigue, Calcinosis, Myalgia, Arthralgia ORPHA:93672
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abdominal pain, Fatigue, Myalgia, Arthralgia, Bone pain ORPHA:98849
Hennekam-Beemer Syndrome
Abdominal pain, Fatigue, Camptodactyly of finger ORPHA:2135
Lead Poisoning
Somatic sensory dysfunction, Impairment of activities of daily living, Abdominal pain, Fatigue, A... ORPHA:330015
Igg4-Related Retroperitoneal Fibrosis
Pain, Abdominal pain, Low back pain, Flank pain, Fatigue, Renal tubular epithelial necrosis ORPHA:49041
Listeriosis
Rhabdomyolysis, Somatic sensory dysfunction, Chills, Ataxia, Back pain, Abdominal pain, Fatigue, ... ORPHA:533
Niemann-Pick Disease Type C
Dystonia, Intention tremor, Axial dystonia, Narcolepsy, Limb dystonia, Tremor ORPHA:646
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Congenital Dyserythropoietic Anemia Type Iii
Fatigue ORPHA:98870
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Cerebral Visual Impairment
Central nervous system degeneration, Neurodegeneration ORPHA:447788
Congenital Disorder Of Glycosylation, Type It
Fatigue, Rhabdomyolysis, Sudden cardiac death OMIM:614921
Hereditary Xanthinuria
Flank pain, Chronic fatigue, Myopathy ORPHA:3467
Polycythemia Vera
Arthralgia, Abdominal pain, Fatigue ORPHA:729
Abnormal Hair, Joint Laxity, And Developmental Delay
Fatigue, Lower limb pain OMIM:261990
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Shigellosis
Rhabdomyolysis, Asthenia, Abdominal pain, Fatigue, Abdominal cramps ORPHA:810
Waldenström Macroglobulinemia
Fatigue, Ataxia ORPHA:33226
Neurodegeneration With Brain Iron Accumulation 1
Choreoathetosis, Global brain atrophy, Ataxia, Myopathy, Neurodegeneration, Urinary incontinence,... OMIM:234200
Congenital Gerbode Defect
Fatigue, Right ventricular hypertrophy, Chest pain ORPHA:99095
Neuroleptic Malignant Syndrome
Rhabdomyolysis, Rigors, Fatigue, Chorea, Urinary incontinence ORPHA:94093
Resistance To Thyrotropin-Releasing Hormone Syndrome
Fatigue ORPHA:99832
Functioning Gonadotropic Adenoma
Fatigue ORPHA:91348
Fixed Subaortic Stenosis
Postexertional malaise, Left ventricular hypertrophy, Patent ductus arteriosus, Chest pain ORPHA:3092
Hellp Syndrome
Shoulder pain, Back pain, Epigastric pain, Abdominal pain, Fatigue ORPHA:244242
Granulomatosis With Polyangiitis
Gangrene, Fatigue, Asthenia, Myalgia OMIM:608710
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
3-Hydroxy-3-Methylglutaric Aciduria
Fatigue, Ataxia ORPHA:20
Mucopolysaccharidosis, Type Ii
Flexion contracture, Neurodegeneration, Macroglossia OMIM:309900
Gamma-Heavy Chain Disease
Fatigue ORPHA:100026
Autoimmune Pulmonary Alveolar Proteinosis
Chest pain, Fatigue ORPHA:747
Chediak-Higashi Syndrome
Foot dorsiflexor weakness, Ataxia, Neurodegeneration OMIM:214500
Steinert Myotonic Dystrophy
Foot dorsiflexor weakness, Abnormality of masticatory muscle, Skeletal muscle atrophy, Abnormalit... ORPHA:273
Septo-Optic Dysplasia Spectrum
Fatigue ORPHA:3157
Erdheim-Chester Disease
Bone pain, Abdominal pain, Fatigue, Ataxia ORPHA:35687
Pituitary Apoplexy
Fatigue, Trigeminal neuralgia ORPHA:95613
Autoimmune Hepatitis
Arthralgia, Abdominal pain, Chronic fatigue ORPHA:2137
Mucopolysaccharidosis, Type Vii
Flexion contracture, Neurodegeneration, Macroglossia OMIM:253220
Behçet Disease
Gangrene, Myositis, Ataxia, Paresthesia, Abdominal pain, Fatigue, Myalgia, Arthralgia ORPHA:117
Al Amyloidosis
Fatigue, Macroglossia ORPHA:85443
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Fatigue ORPHA:300298
Late-Onset Isolated Acth Deficiency
Arthralgia, Abdominal pain, Fatigue ORPHA:199299
Hereditary Pheochromocytoma-Paraganglioma
Fatigue, Episodic abdominal pain, Chest pain ORPHA:29072
Chikungunya
Knee pain, Chills, Shoulder pain, Paresthesia, Fatigue, Myalgia, Arthralgia ORPHA:324625
Lymphoid Interstitial Pneumonia
Fatigue ORPHA:79128
Isolated Right Ventricular Hypoplasia
Fatigue ORPHA:439
Castleman Disease
Constitutional symptom, Abdominal pain, Fatigue, Flank pain ORPHA:160
Dopamine Beta-Hydroxylase Deficiency
Fatigue, Chest pain ORPHA:230
Carney Triad
Abdominal pain, Fatigue, Leiomyosarcoma ORPHA:139411
Hypocalciuric Hypercalcemia, Familial, Type Iii
Bone pain, Fatigue OMIM:600740
Non-Functioning Pituitary Adenoma
Fatigue ORPHA:91349
Xeroderma Pigmentosum
Arthralgia, Fatigue, Cerebral cortical atrophy, Ataxia ORPHA:910
Gaucher Disease Type 3
Bone pain, Fatigue, Ataxia ORPHA:77261
Hughes-Stovin Syndrome
Chest pain, Fatigue ORPHA:228116
Hepatocellular Carcinoma
Constitutional symptom, Epigastric pain, Abdominal pain, Fatigue, Hepatic necrosis, Bone pain ORPHA:88673
Kufor-Rakeb Syndrome
Leg muscle stiffness, Fatigue, Cerebral cortical atrophy, Hypomimic face, Urinary incontinence, B... ORPHA:306674
Multiple Myeloma
Bone pain, Fatigue, Paresthesia ORPHA:29073
Menkes Disease
Chorea, Fatigue, Aplasia/Hypoplasia of the abdominal wall musculature ORPHA:565
Renal Nutcracker Syndrome
Abdominal pain, Flank pain, Fatigue ORPHA:71273
Isolated Thyroid-Stimulating Hormone Deficiency
Fatigue, Macroglossia ORPHA:90674
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Fatigue ORPHA:293978
Q Fever
Fatigue, Myalgia, Night sweats ORPHA:781
Hurler Syndrome
Flexion contracture, Neurodegeneration, Macroglossia OMIM:607014
Pulmonary Alveolar Microlithiasis
Fatigable weakness, Fatigue, Chest pain ORPHA:60025
Primary Hepatic Neuroendocrine Carcinoma
Chronic fatigue, Episodic abdominal pain, Night sweats ORPHA:100085
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Arthralgia, Fatigue, Myalgia ORPHA:183675
Prolactinoma
Fatigue ORPHA:2965
Primary Sjögren Syndrome
Myositis, Chronic pain, Somatic sensory dysfunction, Fatigue, Myalgia, Chorea, Arthralgia ORPHA:289390
Congenital Analbuminemia
Fatigue ORPHA:86816
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Gaucher Disease
Ataxia, Abdominal pain, Fatigue, Arthralgia, Arthrogryposis multiplex congenita, Bone pain ORPHA:355
Acute Adrenal Insufficiency
Arthralgia, Abdominal pain, Fatigue ORPHA:95409
Arterial Tortuosity Syndrome
Fatigue ORPHA:3342
Immunodeficiency 58
Fatigue OMIM:618131
Stevens-Johnson Syndrome
Abdominal pain, Sudden cardiac death, Fatigue ORPHA:36426
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration ORPHA:79244
Hereditary Renal Hypouricemia
Postexertional malaise, Back pain ORPHA:94088
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ataxia, Back pain, Fatigue, Abdominal pain, Neurodegeneration, Torticollis OMIM:619475
Toxic Epidermal Necrolysis
Abdominal pain, Sudden cardiac death, Fatigue ORPHA:537
Cirrhotic Cardiomyopathy
Asthenia, Postexertional malaise, Left ventricular hypertrophy ORPHA:57777
Primary Biliary Cholangitis
Fatigue ORPHA:186
Hermansky-Pudlak Syndrome
Abdominal pain, Fatigue ORPHA:79430
Granulomatosis With Polyangiitis
Gangrene, Chest pain, Abdominal pain, Fatigue, Myalgia, Arthralgia ORPHA:900
Fabry Disease
Abdominal pain, Fatigue, Myalgia, Arthralgia, Left ventricular hypertrophy ORPHA:324
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Abdominal pain, Fatigue ORPHA:567546
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Fatigue ORPHA:309031
Tay-Sachs Disease
Laryngeal dystonia, Dystonia, Tremor, Exaggerated startle response ORPHA:845
Dermatomyositis
Gangrene, Inflammatory myopathy, Fatigue, Myalgia, Arthralgia ORPHA:221
Atrial Septal Defect, Ostium Primum Type
Fatigue, Left ventricular hypertrophy ORPHA:99106
Brucellosis
Chills, Asthenia, Abdominal pain, Fatigue, Chorea, Arthralgia ORPHA:1304
Kikuchi-Fujimoto Disease
Night sweats, Chills, Ataxia, Fatigue, Myalgia, Arthralgia ORPHA:50918
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy ORPHA:293987
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Gastrointestinal Stromal Tumor
Fatigue ORPHA:44890
Hemorrhagic Fever-Renal Syndrome
Chills, Back pain, Abdominal pain, Fatigue, Myalgia ORPHA:340
Familial Glucocorticoid Deficiency
Chronic fatigue, Episodic abdominal pain ORPHA:361
Acromegaly
Arthralgia, Fatigue, Paresthesia, Macroglossia ORPHA:963
Somatomammotropinoma
Arthralgia, Fatigue, Paresthesia, Macroglossia ORPHA:314769
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Arthralgia, Fatigue ORPHA:562639
Primary Sclerosing Cholangitis
Abdominal pain, Generalized amyotrophy, Fatigue ORPHA:171
Hyperparathyroidism-Jaw Tumor Syndrome
Bone pain, Fatigue, Mandibular pain, Episodic abdominal pain ORPHA:99880
Familial Pancreatic Carcinoma
Abdominal pain, Chronic fatigue, Back pain ORPHA:1333
Malt Lymphoma
Abdominal pain, Fatigue ORPHA:52417
Loeys-Dietz Syndrome 6
Arthralgia, Chronic fatigue OMIM:619656
Dehydrated Hereditary Stomatocytosis
Episodic fatigue, Abdominal pain ORPHA:3202
Sandhoff Disease
Exaggerated startle response OMIM:268800
Parathyroid Carcinoma
Bone pain, Fatigue, Mandibular pain, Episodic abdominal pain ORPHA:143
Gallbladder Neuroendocrine Tumor
Chronic fatigue, Episodic abdominal pain ORPHA:100086
Insulin-Resistance Syndrome Type B
Fatigue ORPHA:2298
Exercise-Induced Malignant Hyperthermia
Fatigue, Rhabdomyolysis, Ataxia ORPHA:466650
Sheehan Syndrome
Arthralgia, Chills, Chronic fatigue ORPHA:91355
Coccidioidomycosis
Fatigue, Myalgia, Chest pain ORPHA:228123
Nocardiosis
Chest pain, Night sweats, Chills, Ocular pain, Fatigue ORPHA:31204
Lymphangioleiomyomatosis
Abdominal pain, Fatigue, Chest pain ORPHA:538
African Trypanosomiasis
Somatic sensory dysfunction, Impaired proprioception, Rigors, Choreoathetosis, Paresthesia, Fatig... ORPHA:3385
Lymphatic Filariasis
Fatigue, Pain ORPHA:2035
Nijmegen Breakage Syndrome
Rhabdomyosarcoma, Neurodegeneration OMIM:251260
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Zygomycosis
Abdominal pain, Fatigue, Pain, Chest pain ORPHA:73263
Wiskott-Aldrich Syndrome
Fatigue, Sudden cardiac death, Chest pain ORPHA:906
Addison Disease
Arthralgia, Abdominal pain, Fatigue ORPHA:85138
Complete Atrioventricular Septal Defect
Postexertional malaise, Right ventricular hypertrophy ORPHA:1329
Laubry-Pezzi Syndrome
Fatigue, Left ventricular hypertrophy, Patent ductus arteriosus, Chest pain ORPHA:99094
Secondary Intestinal Lymphangiectasia
Fatigue, Abdominal colic ORPHA:90363
Infection-Related Hemolytic Uremic Syndrome
Abdominal pain, Fatigue, Abdominal cramps ORPHA:544482
Gaisböck Syndrome
Fatigue, Epigastric pain ORPHA:90041
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Fatigue, Macroglossia ORPHA:226307
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Atrial Septal Defect, Coronary Sinus Type
Fatigue ORPHA:99104
Hypermobile Ehlers-Danlos Syndrome
Tendon rupture, Paresthesia, Fatigue, Aplasia/Hypoplasia of the abdominal wall musculature, Myalg... ORPHA:285
Tubulointerstitial Nephritis And Uveitis Syndrome
Ocular pain, Abdominal pain, Fatigue, Flank pain, Myalgia, Arthralgia, Renal tubular epithelial n... ORPHA:91500
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Selective Igm Deficiency
Chronic fatigue ORPHA:331235
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Tsh-Secreting Pituitary Adenoma
Fatigue ORPHA:91347
Generalized Glucocorticoid Resistance Syndrome
Fatigue ORPHA:786
Atrial Septal Defect, Ostium Secundum Type
Fatigue ORPHA:99103
Familial Hypocalciuric Hypercalcemia
Fatigue, Episodic abdominal pain ORPHA:405
Igg4-Related Dacryoadenitis And Sialadenitis
Fatigue, Myositis, Abnormality of the extraocular muscles ORPHA:79078
Kawasaki Disease