Požymiai

Su ABCD1 susiję požymiai

ATP binding cassette subfamily D member 1

Žmogaus fenotipo ontologija sieja 146 požymių su ABCD1, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the nervous system

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

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Abdominal pain	Labai dažnai (80–99%)
Constipation	Labai dažnai (80–99%)
Enlarged colon lacking nerve cells	Labai dažnai (80–99%)
Functional abnormality of the gastrointestinal tract	Labai dažnai (80–99%)
Intestinal obstruction	Labai dažnai (80–99%)
Nausea and vomiting	Labai dažnai (80–99%)
Slowed or blocked flow of bile from liver	Labai dažnai (80–99%)
Abdominal bloating	Dažnai (30–79%)
Bile duct inflammation	Dažnai (30–79%)
Bilious emesis	Dažnai (30–79%)
Feeding difficulties	Dažnai (30–79%)
Loss of bowel control	Dažnai (30–79%)
Colon perforation	Kartais (5–29%)
Diarrhea	Kartais (5–29%)
Enterocolitis	Kartais (5–29%)
Nasogastric tube feeding	Kartais (5–29%)
Poor swallowing	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Progressive spastic paraparesis	Labai dažnai (80–99%)
Functional motor deficit	Dažnai (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Dažnai (30–79%)
Spastic walk	Dažnai (30–79%)
Back pain	Kartais (5–29%)
Hamstring contractures	Kartais (5–29%)
Lower limb spasticity	Kartais (5–29%)
Spastic tetraparesis	Kartais (5–29%)
Bulbar palsy	Neužfiksuota
Spastic paraplegia	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormal erection	Dažnai (30–79%)
Abnormal libido	Dažnai (30–79%)
Female sexual dysfunction	Dažnai (30–79%)
Male sexual dysfunction	Dažnai (30–79%)
Urinary bladder sphincter dysfunction	Dažnai (30–79%)
Loss of bladder control	Kartais (5–29%)
Urinary retention	Kartais (5–29%)
Urinary urgency	Kartais (5–29%)
Difficulty getting a full erection	Neužfiksuota

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Low blood cortisol level	Labai dažnai (80–99%)
Primary adrenal insufficiency	Labai dažnai (80–99%)
Adrenocortical abnormality	Dažnai (30–79%)
Adrenocorticotropic hormone excess	Dažnai (30–79%)
Adrenal insufficiency	Kartais (5–29%)
Decreased function of male gonad	Kartais (5–29%)
Small adrenal glands	Kartais (5–29%)
Decreased activity of gonads	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Clouding of the lens of the eye	Kartais (5–29%)
Cross-eyed	Kartais (5–29%)
Decreased clarity of vision	Kartais (5–29%)
Oculomotor apraxia	Kartais (5–29%)
Blindness	Retai (1–4 %)
Visual loss	Neužfiksuota

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Abnormal circulating fatty acid concentration	Labai dažnai (80–99%)
Very long chain fatty acid accumulation	Labai dažnai (80–99%)
Increased circulating very long-chain fatty acid concentration	Dažnai (30–79%)
High liver enzymes	Kartais (5–29%)
Vitamin B12 deficiency	Kartais (5–29%)
Elevated circulating long chain fatty acid concentration	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Dark color of gums	Dažnai (30–79%)
Darkening of skin of the lips	Dažnai (30–79%)
Involuntary facial quivering	Kartais (5–29%)
Little lower jaw	Kartais (5–29%)
Short nose	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Abnormal skin pigmentation	Dažnai (30–79%)
Fine hair	Dažnai (30–79%)
Frontal balding	Kartais (5–29%)
Hair loss	Neužfiksuota
Patchy darkened skin	Neužfiksuota

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Prenatal growth deficiency	Dažnai (30–79%)
Weight loss	Dažnai (30–79%)
Faltering weight in infancy	Kartais (5–29%)
Growth delay	Kartais (5–29%)
Short stature	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Distal lower limb muscle weakness	Labai dažnai (80–99%)
Leg muscle stiffness	Dažnai (30–79%)
Abnormal rhythmic movements of ankle	Kartais (5–29%)
Lower limb muscle weakness	Neužfiksuota

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Delayed passage of meconium	Dažnai (30–79%)
High levels of amniotic fluid	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Sensorineural hearing impairment	Dažnai (30–79%)
Hearing impairment	Kartais (5–29%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Impaired continence	Labai dažnai (80–99%)
Fatigue	Dažnai (30–79%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Infection in blood stream	Kartais (5–29%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su ABCD1 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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