Traits

Traits linked to ABCD1

ATP binding cassette subfamily D member 1

The Human Phenotype Ontology links 146 traits to ABCD1, 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
Abnormality of peripheral nervous system electrophysiology	Very often (80–99%)
Abnormality of the spinal cord	Very often (80–99%)
Axonal degeneration	Very often (80–99%)
CNS demyelination	Very often (80–99%)
Decreased sensation in extremities	Very often (80–99%)
Diffuse demyelination of the cerebral white matter	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Mental deterioration	Very often (80–99%)
Myelopathy	Very often (80–99%)
Peripheral axonal degeneration	Very often (80–99%)
Peripheral neuropathy	Very often (80–99%)
Abnormal brainstem white matter morphology	Often (30–79%)
Abnormal cerebral white matter morphology	Often (30–79%)
Abnormal periventricular white matter morphology	Often (30–79%)
Atrophy/Degeneration involving the corticospinal tracts	Often (30–79%)
Babinski sign	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Brain imaging abnormality	Often (30–79%)
Cerebral dysmyelination	Often (30–79%)
Degeneration of the spinal cord	Often (30–79%)
Delayed somatosensory central conduction time	Often (30–79%)
Dorsal column degeneration	Often (30–79%)
Epilepsy	Often (30–79%)
Generalized brain degeneration	Often (30–79%)
Increased reflexes	Often (30–79%)
Nerve damage causing decreased feeling and movement	Often (30–79%)
Peripheral axonal neuropathy	Often (30–79%)
Specific learning disability	Often (30–79%)
Abnormal gait	Sometimes (5–29%)
Abnormal speech pattern	Sometimes (5–29%)
Apraxia	Sometimes (5–29%)
Astereognosis	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Cognitive impairment	Sometimes (5–29%)
Confusion	Sometimes (5–29%)
Degeneration of cerebellum	Sometimes (5–29%)
Difficulty articulating speech	Sometimes (5–29%)
Dysesthesia	Sometimes (5–29%)
Dystonia	Sometimes (5–29%)
Generalized hyperreflexia	Sometimes (5–29%)
Hoffmann sign	Sometimes (5–29%)
Impaired visuospatial constructive cognition	Sometimes (5–29%)
Lack of coordination of movement	Sometimes (5–29%)
Limb myoclonus	Sometimes (5–29%)
Memory impairment	Sometimes (5–29%)
More active than typical	Sometimes (5–29%)
Short attention span	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Visual agnosia	Sometimes (5–29%)
Weakness of one side of body	Sometimes (5–29%)
Inability to walk	Rarely (1–4%)
Vegetative state	Rarely (1–4%)
Attention deficit	Not recorded
Dementia	Not recorded
Impaired vibration sensation at ankles	Not recorded
Incoordination	Not recorded
Instability or lack of coordination of central trunk muscles	Not recorded
Limb ataxia	Not recorded
Loss of speech	Not recorded
Ongoing loss of nerve cells	Not recorded
Partial paralysis of legs	Not recorded
Peripheral nerve disease	Not recorded
Psychosis	Not recorded
Slurred speech	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Abdominal pain	Very often (80–99%)
Constipation	Very often (80–99%)
Enlarged colon lacking nerve cells	Very often (80–99%)
Functional abnormality of the gastrointestinal tract	Very often (80–99%)
Intestinal obstruction	Very often (80–99%)
Nausea and vomiting	Very often (80–99%)
Slowed or blocked flow of bile from liver	Very often (80–99%)
Abdominal bloating	Often (30–79%)
Bile duct inflammation	Often (30–79%)
Bilious emesis	Often (30–79%)
Feeding difficulties	Often (30–79%)
Loss of bowel control	Often (30–79%)
Colon perforation	Sometimes (5–29%)
Diarrhea	Sometimes (5–29%)
Enterocolitis	Sometimes (5–29%)
Nasogastric tube feeding	Sometimes (5–29%)
Poor swallowing	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Progressive spastic paraparesis	Very often (80–99%)
Functional motor deficit	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Spastic walk	Often (30–79%)
Back pain	Sometimes (5–29%)
Hamstring contractures	Sometimes (5–29%)
Lower limb spasticity	Sometimes (5–29%)
Spastic tetraparesis	Sometimes (5–29%)
Bulbar palsy	Not recorded
Spastic paraplegia	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal erection	Often (30–79%)
Abnormal libido	Often (30–79%)
Female sexual dysfunction	Often (30–79%)
Male sexual dysfunction	Often (30–79%)
Urinary bladder sphincter dysfunction	Often (30–79%)
Loss of bladder control	Sometimes (5–29%)
Urinary retention	Sometimes (5–29%)
Urinary urgency	Sometimes (5–29%)
Difficulty getting a full erection	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Low blood cortisol level	Very often (80–99%)
Primary adrenal insufficiency	Very often (80–99%)
Adrenocortical abnormality	Often (30–79%)
Adrenocorticotropic hormone excess	Often (30–79%)
Adrenal insufficiency	Sometimes (5–29%)
Decreased function of male gonad	Sometimes (5–29%)
Small adrenal glands	Sometimes (5–29%)
Decreased activity of gonads	Not recorded

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Decreased clarity of vision	Sometimes (5–29%)
Oculomotor apraxia	Sometimes (5–29%)
Blindness	Rarely (1–4%)
Visual loss	Not recorded

Laboratory abnormality

Trait	How often it is seen
Abnormal circulating fatty acid concentration	Very often (80–99%)
Very long chain fatty acid accumulation	Very often (80–99%)
Increased circulating very long-chain fatty acid concentration	Often (30–79%)
High liver enzymes	Sometimes (5–29%)
Vitamin B12 deficiency	Sometimes (5–29%)
Elevated circulating long chain fatty acid concentration	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Dark color of gums	Often (30–79%)
Darkening of skin of the lips	Often (30–79%)
Involuntary facial quivering	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Short nose	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Abnormal skin pigmentation	Often (30–79%)
Fine hair	Often (30–79%)
Frontal balding	Sometimes (5–29%)
Hair loss	Not recorded
Patchy darkened skin	Not recorded

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Often (30–79%)
Weight loss	Often (30–79%)
Faltering weight in infancy	Sometimes (5–29%)
Growth delay	Sometimes (5–29%)
Short stature	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Distal lower limb muscle weakness	Very often (80–99%)
Leg muscle stiffness	Often (30–79%)
Abnormal rhythmic movements of ankle	Sometimes (5–29%)
Lower limb muscle weakness	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Delayed passage of meconium	Often (30–79%)
High levels of amniotic fluid	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Often (30–79%)
Hearing impairment	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Impaired continence	Very often (80–99%)
Fatigue	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Infection in blood stream	Sometimes (5–29%)

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 ABCD1 and how often each is seen. Find out more at hpo.jax.org.

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