| WFS1 |
222300 |
Neoplasms |
|
oncologic |
#15277431 |
| WFS1 |
222300 |
Leukemia-Lymphoma |
hodgkin lymphoma
|
oncologic |
15277431 |
| WFS1 |
222300 |
Musculoskeletal-diseases |
|
musculoskeletal |
#12707373 |
| WFS1 |
222300 |
Bone-diseases |
|
musculoskeletal |
#12707373 |
| WFS1 |
222300 |
Spinal-diseases |
scoliosis
|
musculoskeletal |
12707373 |
| WFS1 |
222300 |
Digestive-system-diseases |
|
gastrointestinal |
#7490992 #12707373 #15277431 #15605410 |
| WFS1 |
222300 |
Gastrointestinal-diseases |
gastrointestinal dysmotility; gastroparesis; irritable bowel syndrome
|
gastrointestinal |
7490992 12707373 #15277431 15605410 |
| WFS1 |
222300 |
Deglutition-disorders |
dysphagia; swallowing defect
|
gastrointestinal |
15277431 |
| WFS1 |
222300 |
Abdominal-pain |
irritable bowel syndrome
|
gastrointestinal |
12707373 |
| WFS1 |
222300 |
Respiratory-tract-diseases |
|
respiratory |
#10521293 #12707373 #15277431 |
| WFS1 |
222300 |
Respiration-disorders |
|
respiratory |
#10521293 #12707373 #15277431 |
| WFS1 |
222300 |
Respiratory-insufficiency |
respiratory arrest; respiratory failure; central apnea; central sleep apnea
|
respiratory |
10521293 12707373 15277431 |
| WFS1 |
222300 |
Nervous-system-diseases |
|
neurologic |
#7490992 #9817917 #10521293 #11260218 #11709538 #12707373 #12754709 #15070927 #15151504 #15277431 #15605410 #16005363 #16151413 #16442662 #16648378 |
| WFS1 |
600965 |
Nervous-system-diseases |
|
neurologic |
#11709537 #11709538 #12073007 #12181639 |
| WFS1 |
222300 |
Central-nervous-system-diseases |
|
neurologic |
#9817917 #10521293 #11260218 #12707373 #15151504 #15277431 #15605410 |
| WFS1 |
222300 |
Brain-diseases |
|
neurologic |
#9817917 #10521293 #11260218 #12707373 #15151504 #15277431 #15605410 |
| WFS1 |
222300 |
Seizures |
epilepsy; myoclonic epilepsy
|
neurologic |
12707373 15277431 15605410 |
| WFS1 |
222300 |
Hydrocephalus |
|
neurologic |
15605410 |
| WFS1 |
222300 |
Cerebellar-atrophy |
pons; pontocerebellar atrophy
|
neurologic |
10521293 12707373 15151504 15605410 |
| WFS1 |
222300 |
Cerebral-atrophy |
brain stem atrophy; brain stem abnormal; medulla abnormal; generalized; posterior pituitary abnormal; lack of neurohypophysis
|
neurologic |
10521293 11260218 15151504 15277431 |
| WFS1 |
222300 |
Electroencephalogram-abnormal |
|
neurologic |
9817917 |
| WFS1 |
222300 |
Neurodegenerative-diseases |
neurodegenerative features
|
neurologic |
7490992 10521293 11260218 12754709 15151504 15277431 16005363 |
| WFS1 |
222300 |
Neurologic-manifestations |
|
neurologic |
#9817917 #10521293 #11260218 #11709538 #12707373 #12754709 #15070927 #15151504 #15277431 #15605410 #16005363 #16151413 #16442662 #16648378 |
| WFS1 |
600965 |
Neurologic-manifestations |
|
neurologic |
#11709537 #11709538 #12073007 #12181639 |
| WFS1 |
222300 |
Neurogenic-bladder |
bladder sphincter disturbance; bladder atony
|
neurologic |
9817917 11260218 15151504 15277431 15605410 16005363 16442662 |
| WFS1 |
222300 |
Ataxia |
|
neurologic |
9817917 15605410 |
| WFS1 |
222300 |
Neurobehavioral-manifestations |
|
neurologic |
#9817917 #10521293 |
| WFS1 |
222300 |
Memory-disorders |
memory loss; short time memory loss
|
neurologic |
10521293 |
| WFS1 |
222300 |
Mental-retardation |
|
neurologic |
9817917 |
| WFS1 |
222300 |
Perceptual-disorders |
|
neurologic |
#10521293 |
| WFS1 |
222300 |
Hallucinations |
|
neurologic |
10521293 |
| WFS1 |
222300 |
Hearing-disorders |
hearing loss; sensorineural; deafness; low frequency in heterozygotes; hearing impairment; progressive
|
neurologic |
9817917 10521293 11709538 12754709 15070927 15151504 15277431 15605410 16005363 16151413 16442662 16648378 |
| WFS1 |
600965 |
Hearing-disorders |
hearing loss; sensorineural; progressive; low frequency; nonsyndromic; low frequency sensorineural hearing loss; LFSNHL; deafness
|
neurologic |
11709537 11709538 12073007 12181639 |
| WFS1 |
600965 |
Tinnitus |
mild tinnitus
|
neurologic |
11709537 12073007 |
| WFS1 |
222300 |
Olfaction-disorders |
olfactory impairment; anosmia
|
neurologic |
12707373 |
| WFS1 |
222300 |
Peripheral-nervous-system-diseases |
|
neurologic |
#9817917 #12707373 |
| WFS1 |
222300 |
Polyneuropathies |
peripheral neuropathy; diabetic
|
neurologic |
9817917 12707373 |
| WFS1 |
222300 |
Sleep-disorders |
sleeping disorder
|
neurologic |
16648378 |
| WFS1 |
222300 |
Eye-diseases |
|
ophthalmologic |
#7490992 #9817917 #10521293 #11260218 #11709538 #12707373 #12754709 #15070927 #15151504 #15277431 #15605410 #16005363 #16151413 #16442662 #16648378 |
| WFS1 |
222300 |
Lens-diseases |
|
ophthalmologic |
#9817917 #11709538 #16151413 #16648378 |
| WFS1 |
222300 |
Cataract |
cataracts; bilateral
|
ophthalmologic |
9817917 11709538 16151413 16648378 |
| WFS1 |
222300 |
Ocular-motility-disorders |
|
ophthalmologic |
#9817917 |
| WFS1 |
222300 |
Pathologic-nystagmus |
|
ophthalmologic |
9817917 |
| WFS1 |
222300 |
Optic-nerve-diseases |
optic atrophy; pale optic disc; bilateral; progressive
|
ophthalmologic |
7490992 9817917 10521293 11260218 12707373 12754709 15070927 15151504 15277431 15605410 16005363 16151413 16442662 16648378 |
| WFS1 |
222300 |
Myopia |
some children
|
ophthalmologic |
15277431 |
| WFS1 |
222300 |
Retinal-diseases |
diabetic retinopathy; proliferative
|
ophthalmologic |
11709538 15070927 15277431 |
| WFS1 |
222300 |
Vision-disorders |
loss of visual acuity; progressive; blindness; visual impairment
|
ophthalmologic |
15151504 15277431 16442662 16648378 |
| WFS1 |
222300 |
Color-vision-defects |
dyschromatopsia
|
ophthalmologic |
15277431 |
| WFS1 |
222300 |
Genitourinary-diseases |
|
genitourinary |
#9817917 #10521293 #12754709 #15070927 #15151504 #15277431 #15605410 #16005363 |
| WFS1 |
222300 |
Urologic-diseases |
|
genitourinary |
#9817917 #10521293 #12754709 #15070927 #15151504 #15277431 #15605410 #16005363 |
| WFS1 |
222300 |
Kidney-diseases |
|
genitourinary |
#9817917 #10521293 #12754709 #15070927 #15151504 #15605410 #16005363 |
| WFS1 |
222300 |
Hydronephrosis |
|
genitourinary |
15605410 |
| WFS1 |
222300 |
Cystic-kidney-diseases |
urinary tract abnormalities; renal tract abnormalities; urinary tract dilatation; renal involvement; ectopic kidneys; renal cysts
|
genitourinary |
9817917 10521293 15151504 15605410 16005363 |
| WFS1 |
222300 |
Renal-insufficiency |
renal failure; diabetic nephropathy; nephropathy; urinary tract dilatation; tubulopathy
|
genitourinary |
12754709 15070927 15151504 15605410 |
| WFS1 |
222300 |
Urination-disorders |
enuresis; polyuria; urinary incontinence
|
genitourinary |
15070927 15151504 15277431 |
| WFS1 |
222300 |
Female-genital-diseases |
|
genitourinary |
#15277431 |
| WFS1 |
222300 |
Menstruation-disturbances |
menstrual disturbances; amenorrhea
|
genitourinary |
15277431 |
| WFS1 |
222300 |
Cardiovascular-diseases |
|
cardiovascular |
#11260218 #12707373 #15277431 |
| WFS1 |
222300 |
Heart-diseases |
|
cardiovascular |
#12707373 #15277431 |
| WFS1 |
222300 |
Arrhythmia |
tachycardia; arrhythmias; paroxysmal atrial tachycardia
|
cardiovascular |
15277431 |
| WFS1 |
222300 |
Cardiorespiratory-arrest |
episodes
|
cardiovascular |
11260218 |
| WFS1 |
222300 |
Heart-valve-diseases |
pulmonary valvular stenosis; EKG abnormal
|
cardiovascular |
12707373 |
| WFS1 |
222300 |
Vascular-diseases |
|
cardiovascular |
#12707373 |
| WFS1 |
222300 |
Hypertension |
|
cardiovascular |
12707373 |
| WFS1 |
222300 |
Metabolic-diseases |
|
metabolic |
#7490992 #9817917 #10521293 #11260218 #11709538 #12707373 #12754709 #15070927 #15151504 #15277431 #15605410 #16005363 #16151413 #16442662 #16648378 |
| WFS1 |
222300 |
Glucose-metabolism-disorders |
|
metabolic |
#7490992 #9817917 #10521293 #11260218 #11709538 #12707373 #12754709 #15070927 #15151504 #15277431 #15605410 #16005363 #16151413 #16442662 #16648378 |
| WFS1 |
222300 |
Diabetes-mellitus |
insulin dependent; early onset; pancreas beta cell loss
|
metabolic |
7490992 9817917 10521293 11260218 11709538 12707373 12754709 15070927 15151504 15277431 15605410 16005363 16151413 16442662 16648378 |
| WFS1 |
222300 |
Glycosuria |
urine sugar
|
metabolic |
16442662 |
| WFS1 |
222300 |
Hyperglycemia |
elevated fasting values; blood glucose elevated
|
metabolic |
11709538 12754709 16648378 |
| WFS1 |
222300 |
Hypoglycemia |
hypoglycemic episodes
|
metabolic |
16442662 |
| WFS1 |
222300 |
Endocrine-system-diseases |
|
endocrinologic |
#7490992 #9817917 #10521293 #12707373 #12754709 #15070927 #15151504 #15277431 #15605410 #16005363 #16151413 #16442662 |
| WFS1 |
222300 |
Adrenal-gland-diseases |
|
endocrinologic |
#15277431 #16005363 |
| WFS1 |
222300 |
Adrenal-insufficiency |
secondary adrenal insufficiency; hypothalamic dysfunction; hypoadrenalism
|
endocrinologic |
15277431 #16005363 |
| WFS1 |
222300 |
Hypocortisolism |
low normal cortisol levels; decreased cortisol excretion
|
endocrinologic |
15277431 16005363 |
| WFS1 |
222300 |
Gonadal-disorders |
|
endocrinologic |
#7490992 #9817917 #12707373 #12754709 #15151504 #15605410 |
| WFS1 |
222300 |
Hypogonadism |
sexual maturation impaired; hypogonadism; primary gonadal atrophy; testicular atrophy; genital defects; gonadotropic hypogonadism
|
endocrinologic |
7490992 9817917 12707373 12754709 15151504 15605410 |
| WFS1 |
222300 |
Puberty-delayed |
sexual maturation retarded
|
endocrinologic |
9817917 |
| WFS1 |
222300 |
Pituitary-diseases |
corticotropin levels abnormal; ACTH decreased; pituitary dysfunction; hypopituitarism; somatotropic deficiency; corticotropin deficiency; panhypopituitarism
|
endocrinologic |
#7490992 #9817917 #10521293 #12754709 #15070927 #15151504 #15605410 16005363 #16151413 #16442662 |
| WFS1 |
222300 |
Diabetes-insipidus |
vasopressin unresponsive
|
endocrinologic |
7490992 9817917 10521293 12754709 15070927 15151504 15605410 16005363 16151413 16442662 |
| WFS1 |
222300 |
Thyroid-diseases |
|
endocrinologic |
#12707373 #15151504 #15277431 #15605410 |
| WFS1 |
222300 |
Goiter |
|
endocrinologic |
15151504 |
| WFS1 |
222300 |
Hypothyroidism |
central hypothyroidism
|
endocrinologic |
12707373 15151504 15277431 15605410 |
| WFS1 |
222300 |
Psychiatric-disorders |
psychiatric manifestations; psychiatric illness; psychiatric signs
|
psychiatric |
9817917 10521293 #11260218 #12707373 15151504 15277431 15605410 #16648378 |
| WFS1 |
222300 |
Behavioral-symptoms |
antisocial behavior; behavioral problems
|
psychiatric |
15151504 15277431 |
| WFS1 |
222300 |
Aggression |
aggressive behavior
|
psychiatric |
15277431 |
| WFS1 |
222300 |
Self-injurious-behavior |
autolytic intent
|
psychiatric |
15151504 |
| WFS1 |
222300 |
Mental-disorders |
|
psychiatric |
#9817917 #10521293 #11260218 #12707373 #15277431 #15605410 #16648378 |
| WFS1 |
222300 |
Anxiety-disorders |
anxiety
|
psychiatric |
16648378 |
| WFS1 |
222300 |
Dementia |
presenile dementia
|
psychiatric |
10521293 15277431 |
| WFS1 |
222300 |
Mood-disorders |
emotional lability
|
psychiatric |
#9817917 10521293 #11260218 #12707373 #15277431 |
| WFS1 |
222300 |
Bipolar-disorder |
manic episodes and depression
|
psychiatric |
15277431 |
| WFS1 |
222300 |
Depressive-disorder |
suicides; bipolar disorder; paranoid depression; endogenous depression
|
psychiatric |
9817917 10521293 11260218 12707373 15277431 |
| WFS1 |
222300 |
Schizophrenia-and-psychotic-disorders |
|
psychiatric |
#15277431 #15605410 |
| WFS1 |
222300 |
Psychotic-disorders |
psychosis; psychotic behavior
|
psychiatric |
15277431 15605410 |
| WFS1 |
222300 |
Mitochondria-abnormal |
Ragged red fibers
|
miscellaneous |
9817917 |
