Tunnused

Geeniga ABCD1 seotud tunnused

ATP binding cassette subfamily D member 1

Inimese fenotüübi ontoloogia seostab geeniga ABCD1 146 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

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

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Abdominal pain	Väga sageli (80–99%)
Constipation	Väga sageli (80–99%)
Enlarged colon lacking nerve cells	Väga sageli (80–99%)
Functional abnormality of the gastrointestinal tract	Väga sageli (80–99%)
Intestinal obstruction	Väga sageli (80–99%)
Nausea and vomiting	Väga sageli (80–99%)
Slowed or blocked flow of bile from liver	Väga sageli (80–99%)
Abdominal bloating	Sageli (30–79%)
Bile duct inflammation	Sageli (30–79%)
Bilious emesis	Sageli (30–79%)
Feeding difficulties	Sageli (30–79%)
Loss of bowel control	Sageli (30–79%)
Colon perforation	Mõnikord (5–29%)
Diarrhea	Mõnikord (5–29%)
Enterocolitis	Mõnikord (5–29%)
Nasogastric tube feeding	Mõnikord (5–29%)
Poor swallowing	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Progressive spastic paraparesis	Väga sageli (80–99%)
Functional motor deficit	Sageli (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sageli (30–79%)
Spastic walk	Sageli (30–79%)
Back pain	Mõnikord (5–29%)
Hamstring contractures	Mõnikord (5–29%)
Lower limb spasticity	Mõnikord (5–29%)
Spastic tetraparesis	Mõnikord (5–29%)
Bulbar palsy	Pole registreeritud
Spastic paraplegia	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Abnormal erection	Sageli (30–79%)
Abnormal libido	Sageli (30–79%)
Female sexual dysfunction	Sageli (30–79%)
Male sexual dysfunction	Sageli (30–79%)
Urinary bladder sphincter dysfunction	Sageli (30–79%)
Loss of bladder control	Mõnikord (5–29%)
Urinary retention	Mõnikord (5–29%)
Urinary urgency	Mõnikord (5–29%)
Difficulty getting a full erection	Pole registreeritud

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Low blood cortisol level	Väga sageli (80–99%)
Primary adrenal insufficiency	Väga sageli (80–99%)
Adrenocortical abnormality	Sageli (30–79%)
Adrenocorticotropic hormone excess	Sageli (30–79%)
Adrenal insufficiency	Mõnikord (5–29%)
Decreased function of male gonad	Mõnikord (5–29%)
Small adrenal glands	Mõnikord (5–29%)
Decreased activity of gonads	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Clouding of the lens of the eye	Mõnikord (5–29%)
Cross-eyed	Mõnikord (5–29%)
Decreased clarity of vision	Mõnikord (5–29%)
Oculomotor apraxia	Mõnikord (5–29%)
Blindness	Harva (1–4%)
Visual loss	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Abnormal circulating fatty acid concentration	Väga sageli (80–99%)
Very long chain fatty acid accumulation	Väga sageli (80–99%)
Increased circulating very long-chain fatty acid concentration	Sageli (30–79%)
High liver enzymes	Mõnikord (5–29%)
Vitamin B12 deficiency	Mõnikord (5–29%)
Elevated circulating long chain fatty acid concentration	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Dark color of gums	Sageli (30–79%)
Darkening of skin of the lips	Sageli (30–79%)
Involuntary facial quivering	Mõnikord (5–29%)
Little lower jaw	Mõnikord (5–29%)
Short nose	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Abnormal skin pigmentation	Sageli (30–79%)
Fine hair	Sageli (30–79%)
Frontal balding	Mõnikord (5–29%)
Hair loss	Pole registreeritud
Patchy darkened skin	Pole registreeritud

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Prenatal growth deficiency	Sageli (30–79%)
Weight loss	Sageli (30–79%)
Faltering weight in infancy	Mõnikord (5–29%)
Growth delay	Mõnikord (5–29%)
Short stature	Mõnikord (5–29%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Distal lower limb muscle weakness	Väga sageli (80–99%)
Leg muscle stiffness	Sageli (30–79%)
Abnormal rhythmic movements of ankle	Mõnikord (5–29%)
Lower limb muscle weakness	Pole registreeritud

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Delayed passage of meconium	Sageli (30–79%)
High levels of amniotic fluid	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Sensorineural hearing impairment	Sageli (30–79%)
Hearing impairment	Mõnikord (5–29%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Impaired continence	Väga sageli (80–99%)
Fatigue	Sageli (30–79%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Infection in blood stream	Mõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga ABCD1 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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