Traits

Traits linked to WFS1

wolframin ER transmembrane glycoprotein

The Human Phenotype Ontology links 81 traits to WFS1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Anxiety	Very often (80–99%)
Autism spectrum disorder	Very often (80–99%)
Dementia	Very often (80–99%)
Depression	Very often (80–99%)
Extreme thirst	Very often (80–99%)
Psychosis	Very often (80–99%)
Ataxia	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Epilepsy	Often (30–79%)
Peripheral axonal neuropathy	Often (30–79%)
Progressive cerebellar ataxia	Often (30–79%)
Tremor	Often (30–79%)
Abnormal autonomic nervous system physiology	Sometimes (5–29%)
Behavioral abnormality	Sometimes (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Sometimes (5–29%)
Difficulty sleeping	Sometimes (5–29%)
Hallucinations	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Loss of developmental milestones	Sometimes (5–29%)
Peripheral neuropathy	Sometimes (5–29%)
Degeneration of cerebrum	Not recorded

Abnormality of the eye

Trait	How often it is seen
Blind-spot enlargement	Always
Decreased clarity of vision	Always
Optic atrophy	Very often (80–99%)
Clouding of the lens of the eye	Often (30–79%)
Glaucoma	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Marked vision impairment	Often (30–79%)
Optic disc pallor	Often (30–79%)
Eye muscle paralysis	Sometimes (5–29%)
Drooping upper eyelid	Not recorded
Pigmentary retinopathy	Not recorded
Yellowish cloudy center of lens	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Hydronephrosis	Very often (80–99%)
Abnormality of the upper urinary tract	Often (30–79%)
Dull burning sensation with urination	Often (30–79%)
Frequent urinary tract infections	Often (30–79%)
Kidney damage	Often (30–79%)
Urinary tract abnormalities	Often (30–79%)
Hydroureter	Not recorded
Lack of bladder control due to nervous system injury	Not recorded
Testicular degeneration	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Abnormal mesentery morphology	Often (30–79%)
Feeding difficulties in infancy	Often (30–79%)
Gastrointestinal dysmotility	Often (30–79%)
Constipation	Sometimes (5–29%)
Malabsorption	Sometimes (5–29%)
Stomach ulcer	Sometimes (5–29%)
Poor swallowing	Not recorded

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Always
Sensorineural hearing impairment	Very often (80–99%)
Abnormally shaped ears	Often (30–79%)
Congenital sensorineural hearing impairment	Often (30–79%)
Progressive hearing impairment	Often (30–79%)
Low-frequency sensorineural hearing impairment	Not recorded
Progressive sensorineural hearing impairment	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Diabetes insipidus	Very often (80–99%)
Central diabetes insipidus	Often (30–79%)
Decreased function of male gonad	Often (30–79%)
Delayed puberty	Often (30–79%)
Primary gonadal insufficiency	Often (30–79%)
Decreased activity of gonads	Sometimes (5–29%)
Underactive thyroid	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Gastrointestinal bleeding	Sometimes (5–29%)
Low number of red blood cells or hemoglobin	Sometimes (5–29%)
Low platelet count	Not recorded
Megaloblastic anemia	Not recorded
Sideroblastic anemia	Not recorded

Laboratory abnormality

Trait	How often it is seen
Diabetes mellitus	Always
Glucose intolerance	Often (30–79%)
Impaired glucose tolerance	Often (30–79%)
Noninsulin-dependent diabetes	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Disease of the heart muscle	Sometimes (5–29%)
Stroke-like episode	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Joint stiffness	Sometimes (5–29%)
Muscle tissue disease	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Central apnea	Sometimes (5–29%)
Respiratory function loss	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay	Often (30–79%)
Severe growth delay in children	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Limited mobility of innermost hinge joint	Not recorded

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to WFS1 and how often each is seen. Find out more at hpo.jax.org.

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