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	Hoe vaak het voorkomt
Abnormality of peripheral nervous system electrophysiology	Heel vaak (80–99%)
Abnormality of the spinal cord	Heel vaak (80–99%)
Axonal degeneration	Heel vaak (80–99%)
CNS demyelination	Heel vaak (80–99%)
Decreased sensation in extremities	Heel vaak (80–99%)
Diffuse demyelination of the cerebral white matter	Heel vaak (80–99%)
Global developmental delay	Heel vaak (80–99%)
Mental deterioration	Heel vaak (80–99%)
Myelopathy	Heel vaak (80–99%)
Peripheral axonal degeneration	Heel vaak (80–99%)
Peripheral neuropathy	Heel vaak (80–99%)
Abnormal brainstem white matter morphology	Vaak (30–79%)
Abnormal cerebral white matter morphology	Vaak (30–79%)
Abnormal periventricular white matter morphology	Vaak (30–79%)
Atrophy/Degeneration involving the corticospinal tracts	Vaak (30–79%)
Babinski sign	Vaak (30–79%)
Behavioral abnormality	Vaak (30–79%)
Brain imaging abnormality	Vaak (30–79%)
Cerebral dysmyelination	Vaak (30–79%)
Degeneration of the spinal cord	Vaak (30–79%)
Delayed somatosensory central conduction time	Vaak (30–79%)
Dorsal column degeneration	Vaak (30–79%)
Epilepsy	Vaak (30–79%)
Generalized brain degeneration	Vaak (30–79%)
Increased reflexes	Vaak (30–79%)
Nerve damage causing decreased feeling and movement	Vaak (30–79%)
Peripheral axonal neuropathy	Vaak (30–79%)
Specific learning disability	Vaak (30–79%)
Abnormal gait	Soms (5–29%)
Abnormal speech pattern	Soms (5–29%)
Apraxia	Soms (5–29%)
Astereognosis	Soms (5–29%)
Ataxia	Soms (5–29%)
Cognitive impairment	Soms (5–29%)
Confusion	Soms (5–29%)
Degeneration of cerebellum	Soms (5–29%)
Difficulty articulating speech	Soms (5–29%)
Dysesthesia	Soms (5–29%)
Dystonia	Soms (5–29%)
Generalized hyperreflexia	Soms (5–29%)
Hoffmann sign	Soms (5–29%)
Impaired visuospatial constructive cognition	Soms (5–29%)
Lack of coordination of movement	Soms (5–29%)
Limb myoclonus	Soms (5–29%)
Memory impairment	Soms (5–29%)
More active than typical	Soms (5–29%)
Short attention span	Soms (5–29%)
Ventriculomegaly	Soms (5–29%)
Visual agnosia	Soms (5–29%)
Weakness of one side of body	Soms (5–29%)
Inability to walk	Zelden (1–4%)
Vegetative state	Zelden (1–4%)
Attention deficit	Niet vastgelegd
Dementia	Niet vastgelegd
Impaired vibration sensation at ankles	Niet vastgelegd
Incoordination	Niet vastgelegd
Instability or lack of coordination of central trunk muscles	Niet vastgelegd
Limb ataxia	Niet vastgelegd
Loss of speech	Niet vastgelegd
Ongoing loss of nerve cells	Niet vastgelegd
Partial paralysis of legs	Niet vastgelegd
Peripheral nerve disease	Niet vastgelegd
Psychosis	Niet vastgelegd
Slurred speech	Niet vastgelegd

Abnormality of the digestive system

Trait	Hoe vaak het voorkomt
Abdominal pain	Heel vaak (80–99%)
Constipation	Heel vaak (80–99%)
Enlarged colon lacking nerve cells	Heel vaak (80–99%)
Functional abnormality of the gastrointestinal tract	Heel vaak (80–99%)
Intestinal obstruction	Heel vaak (80–99%)
Nausea and vomiting	Heel vaak (80–99%)
Slowed or blocked flow of bile from liver	Heel vaak (80–99%)
Abdominal bloating	Vaak (30–79%)
Bile duct inflammation	Vaak (30–79%)
Bilious emesis	Vaak (30–79%)
Feeding difficulties	Vaak (30–79%)
Loss of bowel control	Vaak (30–79%)
Colon perforation	Soms (5–29%)
Diarrhea	Soms (5–29%)
Enterocolitis	Soms (5–29%)
Nasogastric tube feeding	Soms (5–29%)
Poor swallowing	Soms (5–29%)

Abnormality of the musculoskeletal system

Trait	Hoe vaak het voorkomt
Progressive spastic paraparesis	Heel vaak (80–99%)
Functional motor deficit	Vaak (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Vaak (30–79%)
Spastic walk	Vaak (30–79%)
Back pain	Soms (5–29%)
Hamstring contractures	Soms (5–29%)
Lower limb spasticity	Soms (5–29%)
Spastic tetraparesis	Soms (5–29%)
Bulbar palsy	Niet vastgelegd
Spastic paraplegia	Niet vastgelegd

Abnormality of the genitourinary system

Trait	Hoe vaak het voorkomt
Abnormal erection	Vaak (30–79%)
Abnormal libido	Vaak (30–79%)
Female sexual dysfunction	Vaak (30–79%)
Male sexual dysfunction	Vaak (30–79%)
Urinary bladder sphincter dysfunction	Vaak (30–79%)
Loss of bladder control	Soms (5–29%)
Urinary retention	Soms (5–29%)
Urinary urgency	Soms (5–29%)
Difficulty getting a full erection	Niet vastgelegd

Abnormality of the endocrine system

Trait	Hoe vaak het voorkomt
Low blood cortisol level	Heel vaak (80–99%)
Primary adrenal insufficiency	Heel vaak (80–99%)
Adrenocortical abnormality	Vaak (30–79%)
Adrenocorticotropic hormone excess	Vaak (30–79%)
Adrenal insufficiency	Soms (5–29%)
Decreased function of male gonad	Soms (5–29%)
Small adrenal glands	Soms (5–29%)
Decreased activity of gonads	Niet vastgelegd

Abnormality of the eye

Trait	Hoe vaak het voorkomt
Clouding of the lens of the eye	Soms (5–29%)
Cross-eyed	Soms (5–29%)
Decreased clarity of vision	Soms (5–29%)
Oculomotor apraxia	Soms (5–29%)
Blindness	Zelden (1–4%)
Visual loss	Niet vastgelegd

Laboratory abnormality

Trait	Hoe vaak het voorkomt
Abnormal circulating fatty acid concentration	Heel vaak (80–99%)
Very long chain fatty acid accumulation	Heel vaak (80–99%)
Increased circulating very long-chain fatty acid concentration	Vaak (30–79%)
High liver enzymes	Soms (5–29%)
Vitamin B12 deficiency	Soms (5–29%)
Elevated circulating long chain fatty acid concentration	Niet vastgelegd

Abnormality of head or neck

Trait	Hoe vaak het voorkomt
Dark color of gums	Vaak (30–79%)
Darkening of skin of the lips	Vaak (30–79%)
Involuntary facial quivering	Soms (5–29%)
Little lower jaw	Soms (5–29%)
Short nose	Soms (5–29%)

Abnormality of the integument

Trait	Hoe vaak het voorkomt
Abnormal skin pigmentation	Vaak (30–79%)
Fine hair	Vaak (30–79%)
Frontal balding	Soms (5–29%)
Hair loss	Niet vastgelegd
Patchy darkened skin	Niet vastgelegd

Growth abnormality

Trait	Hoe vaak het voorkomt
Prenatal growth deficiency	Vaak (30–79%)
Weight loss	Vaak (30–79%)
Faltering weight in infancy	Soms (5–29%)
Growth delay	Soms (5–29%)
Short stature	Soms (5–29%)

Abnormality of limbs

Trait	Hoe vaak het voorkomt
Distal lower limb muscle weakness	Heel vaak (80–99%)
Leg muscle stiffness	Vaak (30–79%)
Abnormal rhythmic movements of ankle	Soms (5–29%)
Lower limb muscle weakness	Niet vastgelegd

Abnormality of prenatal development or birth

Trait	Hoe vaak het voorkomt
Delayed passage of meconium	Vaak (30–79%)
High levels of amniotic fluid	Soms (5–29%)

Abnormality of the ear

Trait	Hoe vaak het voorkomt
Sensorineural hearing impairment	Vaak (30–79%)
Hearing impairment	Soms (5–29%)

Constitutional symptom

Trait	Hoe vaak het voorkomt
Impaired continence	Heel vaak (80–99%)
Fatigue	Vaak (30–79%)

Abnormality of the immune system

Trait	Hoe vaak het voorkomt
Infection in blood stream	Soms (5–29%)

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

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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