Tunnused

Geeniga ERCC8 seotud tunnused

ERCC excision repair 8, CSA ubiquitin ligase complex subunit

Inimese fenotüübi ontoloogia seostab geeniga ERCC8 168 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

ERCC8

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Global developmental delay	Alati
Abnormal myelination	Väga sageli (80–99%)
Absent brainstem auditory responses	Väga sageli (80–99%)
Astrocytosis	Väga sageli (80–99%)
Intellectual disability	Väga sageli (80–99%)
Neurodevelopmental delay	Väga sageli (80–99%)
Patchy demyelination of subcortical white matter	Väga sageli (80–99%)
Ventriculomegaly	Väga sageli (80–99%)
Abnormal gait	Sageli (30–79%)
Abnormality of peripheral nerve conduction	Sageli (30–79%)
Absent reflexes	Sageli (30–79%)
Ataxia	Sageli (30–79%)
Balance impairment	Sageli (30–79%)
Brain degeneration	Sageli (30–79%)
Cerebral white matter atrophy	Sageli (30–79%)
Degeneration of cerebellum	Sageli (30–79%)
Degeneration of cerebrum	Sageli (30–79%)
Demyelinating peripheral neuropathy	Sageli (30–79%)
Epilepsy	Sageli (30–79%)
Increased reflexes	Sageli (30–79%)
Intellectual disability, mild	Sageli (30–79%)
Intention tremor	Sageli (30–79%)
Peripheral axonal neuropathy	Sageli (30–79%)
Peripheral neuropathy	Sageli (30–79%)
Tremor	Sageli (30–79%)
Unsteady walk	Sageli (30–79%)
Cognitive impairment	Mõnikord (5–29%)
Difficulty sleeping	Mõnikord (5–29%)
Worsening neurological symptoms	Mõnikord (5–29%)
Abnormal auditory evoked potentials	Pole registreeritud
Abnormal peripheral myelination	Pole registreeritud
Decreased nerve conduction velocity	Pole registreeritud
Dementia	Pole registreeritud
Difficulty articulating speech	Pole registreeritud
Normal pressure hydrocephalus	Pole registreeritud
Peripheral dysmyelination	Pole registreeritud
Peripheral nerve disease	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Clouding of the lens of the eye	Alati
Deeply set eye	Väga sageli (80–99%)
Pigmentary retinopathy	Väga sageli (80–99%)
Retinal pigment epithelial mottling	Väga sageli (80–99%)
Decreased tear secretion	Sageli (30–79%)
Optic atrophy	Sageli (30–79%)
Retinal atrophy	Sageli (30–79%)
Visual impairment	Sageli (30–79%)
Absence of eyeballs	Mõnikord (5–29%)
Clouding of the lens of the eye at birth	Mõnikord (5–29%)
Cross-eyed	Mõnikord (5–29%)
Extreme sensitivity of the eyes to light	Mõnikord (5–29%)
Farsightedness	Mõnikord (5–29%)
Involuntary, rapid, rhythmic eye movements	Mõnikord (5–29%)
Uveitis	Mõnikord (5–29%)
Abnormally small eyeball	Harva (1–4%)
Breakdown of light-sensitive cells in back of eye	Harva (1–4%)
Bulging of eye lens	Harva (1–4%)
Cornea of eye less than 10mm in diameter	Harva (1–4%)
Corneal ulceration	Harva (1–4%)
Optic disc pallor	Harva (1–4%)
Retina degeneration	Harva (1–4%)
Abnormality of visual evoked potentials	Pole registreeritud
Opacification of the corneal stroma	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Prominent nose	Alati
Thin dental enamel	Alati
Abnormal facial shape	Väga sageli (80–99%)
Abnormally small head	Väga sageli (80–99%)
Abnormal dentition	Sageli (30–79%)
Big lower jaw	Sageli (30–79%)
Dental cavities	Sageli (30–79%)
Long face	Sageli (30–79%)
Decreased width of baby teeth	Mõnikord (5–29%)
Delayed eruption of baby teeth	Mõnikord (5–29%)
Failure of development of all teeth	Mõnikord (5–29%)
Narrow nose	Mõnikord (5–29%)
Pink eye	Mõnikord (5–29%)
Progressively abnormally small cranium	Mõnikord (5–29%)
Short chin	Mõnikord (5–29%)
Wide gaps between baby teeth	Mõnikord (5–29%)
Dry eye syndrome	Harva (1–4%)
Bad bite	Pole registreeritud
Decreased amount of facial fat	Pole registreeritud
Decreased size of teeth	Pole registreeritud
Increased thickness of skull cap	Pole registreeritud
Slender nose	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Joint contracture	Alati
Low muscle tone	Alati
Basal ganglia calcification	Väga sageli (80–99%)
Cerebellar dentate nucleus calcification	Väga sageli (80–99%)
Subcortical white matter calcifications	Väga sageli (80–99%)
Functional motor deficit	Sageli (30–79%)
Muscle degeneration	Sageli (30–79%)
Scoliosis	Sageli (30–79%)
Flexed joint that cannot be straightened	Mõnikord (5–29%)
Hunched back	Mõnikord (5–29%)
Low muscle tone in trunk	Mõnikord (5–29%)
Lower limb spasticity	Mõnikord (5–29%)
Scarring	Mõnikord (5–29%)
Hypoplastic iliac wing	Pole registreeritud
Hypoplastic pelvis	Pole registreeritud
Limitation of joint mobility	Pole registreeritud
Muscle weakness	Pole registreeritud
Square pelvis bone	Pole registreeritud

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Freckling	Alati
Photosensitive skin	Alati
Decreased ability to sweat	Sageli (30–79%)
Premature aged appearance	Sageli (30–79%)
Dry hair	Mõnikord (5–29%)
Hyperpigmented skin patches	Mõnikord (5–29%)
Premature graying of hair	Mõnikord (5–29%)
Abnormal skin pigmentation	Pole registreeritud
Atypical scarring of skin	Pole registreeritud
Dry skin	Pole registreeritud
Lack of sweating	Pole registreeritud
Prematurely aged appearance	Pole registreeritud
Reduced fat tissue below the skin	Pole registreeritud
Sparse hair	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
High blood pressure	Sageli (30–79%)
Persistent left superior vena cava	Sageli (30–79%)
Premature coronary artery disease	Sageli (30–79%)
Vascular calcification	Sageli (30–79%)
Increased blood pressure	Mõnikord (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Harva (1–4%)
Disease of the heart muscle	Harva (1–4%)
Increased spleen size	Harva (1–4%)
Stroke	Harva (1–4%)
Abnormal heart rate	Pole registreeritud
Thymic hormone decreased	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Undescended testes	Alati
Lack of bladder control due to nervous system injury	Sageli (30–79%)
Hydronephrosis	Mõnikord (5–29%)
Hydroureter	Mõnikord (5–29%)
Renal failure	Mõnikord (5–29%)
Urinary retention	Mõnikord (5–29%)
Absent kidney on one side	Harva (1–4%)
Small kidneys	Harva (1–4%)
Menstrual irregularity	Pole registreeritud
Short penis	Pole registreeritud

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Alati
Growth delay as children	Alati
Severe short stature	Alati
Short stature	Alati
Prenatal growth deficiency	Väga sageli (80–99%)
Mild growth deficiency	Mõnikord (5–29%)
Severe growth delay in children	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Sensorineural hearing impairment	Alati
Hearing impairment	Väga sageli (80–99%)
Adult onset sensorineural hearing impairment	Sageli (30–79%)
Conductive deafness	Mõnikord (5–29%)
Large ears	Mõnikord (5–29%)
Abnormally shaped ears	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Diarrhea	Sageli (30–79%)
Acid reflux	Mõnikord (5–29%)
Enlarged liver	Mõnikord (5–29%)
Feeding difficulties	Mõnikord (5–29%)
Feeding difficulties in infancy	Mõnikord (5–29%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Contractures of the foot joints	Väga sageli (80–99%)
Hip contracture	Sageli (30–79%)
Increased muscle tone of arm or leg	Mõnikord (5–29%)
Increased bone density of end part of the hand bones	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
High liver enzymes	Väga sageli (80–99%)
Abnormality of temperature regulation	Sageli (30–79%)
High urine protein levels	Sageli (30–79%)
Increased blood urea nitrogen	Sageli (30–79%)

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Low number of red blood cells or hemoglobin	Mõnikord (5–29%)
Retinal bleeding	Harva (1–4%)
Subdural hemorrhage	Harva (1–4%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Decreased function of male gonad	Harva (1–4%)
Decreased activity of gonads	Pole registreeritud

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Increased cellular sensitivity to UV light	Pole registreeritud

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 ERCC8 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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