Trăsături

Trăsături asociate cu ABCD1

ATP binding cassette subfamily D member 1

Human Phenotype Ontology asociază 146 trăsături cu ABCD1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the nervous system

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

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Abdominal pain	Foarte des (80–99%)
Constipation	Foarte des (80–99%)
Enlarged colon lacking nerve cells	Foarte des (80–99%)
Functional abnormality of the gastrointestinal tract	Foarte des (80–99%)
Intestinal obstruction	Foarte des (80–99%)
Nausea and vomiting	Foarte des (80–99%)
Slowed or blocked flow of bile from liver	Foarte des (80–99%)
Abdominal bloating	Des (30–79%)
Bile duct inflammation	Des (30–79%)
Bilious emesis	Des (30–79%)
Feeding difficulties	Des (30–79%)
Loss of bowel control	Des (30–79%)
Colon perforation	Uneori (5–29%)
Diarrhea	Uneori (5–29%)
Enterocolitis	Uneori (5–29%)
Nasogastric tube feeding	Uneori (5–29%)
Poor swallowing	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Progressive spastic paraparesis	Foarte des (80–99%)
Functional motor deficit	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Des (30–79%)
Spastic walk	Des (30–79%)
Back pain	Uneori (5–29%)
Hamstring contractures	Uneori (5–29%)
Lower limb spasticity	Uneori (5–29%)
Spastic tetraparesis	Uneori (5–29%)
Bulbar palsy	Neînregistrat
Spastic paraplegia	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormal erection	Des (30–79%)
Abnormal libido	Des (30–79%)
Female sexual dysfunction	Des (30–79%)
Male sexual dysfunction	Des (30–79%)
Urinary bladder sphincter dysfunction	Des (30–79%)
Loss of bladder control	Uneori (5–29%)
Urinary retention	Uneori (5–29%)
Urinary urgency	Uneori (5–29%)
Difficulty getting a full erection	Neînregistrat

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Low blood cortisol level	Foarte des (80–99%)
Primary adrenal insufficiency	Foarte des (80–99%)
Adrenocortical abnormality	Des (30–79%)
Adrenocorticotropic hormone excess	Des (30–79%)
Adrenal insufficiency	Uneori (5–29%)
Decreased function of male gonad	Uneori (5–29%)
Small adrenal glands	Uneori (5–29%)
Decreased activity of gonads	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Clouding of the lens of the eye	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Decreased clarity of vision	Uneori (5–29%)
Oculomotor apraxia	Uneori (5–29%)
Blindness	Rar (1–4%)
Visual loss	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Abnormal circulating fatty acid concentration	Foarte des (80–99%)
Very long chain fatty acid accumulation	Foarte des (80–99%)
Increased circulating very long-chain fatty acid concentration	Des (30–79%)
High liver enzymes	Uneori (5–29%)
Vitamin B12 deficiency	Uneori (5–29%)
Elevated circulating long chain fatty acid concentration	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Dark color of gums	Des (30–79%)
Darkening of skin of the lips	Des (30–79%)
Involuntary facial quivering	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
Short nose	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Abnormal skin pigmentation	Des (30–79%)
Fine hair	Des (30–79%)
Frontal balding	Uneori (5–29%)
Hair loss	Neînregistrat
Patchy darkened skin	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Prenatal growth deficiency	Des (30–79%)
Weight loss	Des (30–79%)
Faltering weight in infancy	Uneori (5–29%)
Growth delay	Uneori (5–29%)
Short stature	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Distal lower limb muscle weakness	Foarte des (80–99%)
Leg muscle stiffness	Des (30–79%)
Abnormal rhythmic movements of ankle	Uneori (5–29%)
Lower limb muscle weakness	Neînregistrat

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Delayed passage of meconium	Des (30–79%)
High levels of amniotic fluid	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Sensorineural hearing impairment	Des (30–79%)
Hearing impairment	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Impaired continence	Foarte des (80–99%)
Fatigue	Des (30–79%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Infection in blood stream	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu ABCD1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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