Traits

Traits linked to ARSA

arylsulfatase A

The Human Phenotype Ontology links 65 traits to ARSA, 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
Abnormal gait	Often (30–79%)
Abnormal social behavior	Often (30–79%)
Can't control feelings	Often (30–79%)
Clumsiness	Often (30–79%)
Decreased nerve conduction velocity	Often (30–79%)
Decreased reflex response	Often (30–79%)
Delusions	Often (30–79%)
Dementia	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Dystonia	Often (30–79%)
Epilepsy	Often (30–79%)
Hallucinations	Often (30–79%)
Inability to coordinate movements when walking	Often (30–79%)
Leukodystrophy	Often (30–79%)
Loss of developmental milestones	Often (30–79%)
Memory impairment	Often (30–79%)
Progressive gait ataxia	Often (30–79%)
Progressive peripheral neuropathy	Often (30–79%)
Punctate periventricular T2 hyperintense foci	Often (30–79%)
Short attention span	Often (30–79%)
Toe walking	Often (30–79%)
Babinski sign	Sometimes (5–29%)
Bulbar signs	Sometimes (5–29%)
Chorea	Sometimes (5–29%)
Depression	Sometimes (5–29%)
Intention tremor	Sometimes (5–29%)
Loss of speech	Sometimes (5–29%)
Progressive psychomotor deterioration	Sometimes (5–29%)
Schizophrenia	Sometimes (5–29%)
Vegetative state	Rarely (1–4%)
Abnormal cerebral white matter morphology	Not recorded
Ataxia	Not recorded
Increased reflexes	Not recorded
Intellectual disability	Not recorded
Mental deterioration	Not recorded
Paralysis of all four limbs	Not recorded
Peripheral demyelination	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
EMG: chronic denervation signs	Often (30–79%)
Frequent falls	Often (30–79%)
Generalized decreased muscle tone	Often (30–79%)
Muscle weakness	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Progressive spastic quadriplegia	Sometimes (5–29%)
Decerebrate rigidity	Rarely (1–4%)
Bulbar palsy	Not recorded
EMG: neuropathic changes	Not recorded
Low muscle tone	Not recorded
Spastic tetraplegia	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Abdominal bloating	Sometimes (5–29%)
Feeding difficulties in infancy	Sometimes (5–29%)
Gallbladder inflammation	Sometimes (5–29%)
Loss of bowel control	Sometimes (5–29%)
Neoplasm of the gallbladder	Rarely (1–4%)
Gallbladder dysfunction	Not recorded

Laboratory abnormality

Trait	How often it is seen
Abnormal glycosphingolipid metabolism	Often (30–79%)
Increased CSF protein concentration	Often (30–79%)
Laboratory abnormality	Sometimes (5–29%)
Reduced leukocyte arylsulfatase A activity	Not recorded

Abnormality of the eye

Trait	How often it is seen
Optic atrophy	Often (30–79%)
Abnormality of visual evoked potentials	Sometimes (5–29%)
Decreased clarity of vision	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Impaired cerebroside sulfate hydrolysis	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Orthostatic hypotension due to autonomic dysfunction	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Bilateral sensorineural hearing impairment	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Loss of bladder control	Often (30–79%)

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 ARSA and how often each is seen. Find out more at hpo.jax.org.

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