Požymiai

Su ERCC8 susiję požymiai

ERCC excision repair 8, CSA ubiquitin ligase complex subunit

Žmogaus fenotipo ontologija sieja 168 požymių su ERCC8, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

ERCC8

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Global developmental delay	Visada
Abnormal myelination	Labai dažnai (80–99%)
Absent brainstem auditory responses	Labai dažnai (80–99%)
Astrocytosis	Labai dažnai (80–99%)
Intellectual disability	Labai dažnai (80–99%)
Neurodevelopmental delay	Labai dažnai (80–99%)
Patchy demyelination of subcortical white matter	Labai dažnai (80–99%)
Ventriculomegaly	Labai dažnai (80–99%)
Abnormal gait	Dažnai (30–79%)
Abnormality of peripheral nerve conduction	Dažnai (30–79%)
Absent reflexes	Dažnai (30–79%)
Ataxia	Dažnai (30–79%)
Balance impairment	Dažnai (30–79%)
Brain degeneration	Dažnai (30–79%)
Cerebral white matter atrophy	Dažnai (30–79%)
Degeneration of cerebellum	Dažnai (30–79%)
Degeneration of cerebrum	Dažnai (30–79%)
Demyelinating peripheral neuropathy	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Increased reflexes	Dažnai (30–79%)
Intellectual disability, mild	Dažnai (30–79%)
Intention tremor	Dažnai (30–79%)
Peripheral axonal neuropathy	Dažnai (30–79%)
Peripheral neuropathy	Dažnai (30–79%)
Tremor	Dažnai (30–79%)
Unsteady walk	Dažnai (30–79%)
Cognitive impairment	Kartais (5–29%)
Difficulty sleeping	Kartais (5–29%)
Worsening neurological symptoms	Kartais (5–29%)
Abnormal auditory evoked potentials	Neužfiksuota
Abnormal peripheral myelination	Neužfiksuota
Decreased nerve conduction velocity	Neužfiksuota
Dementia	Neužfiksuota
Difficulty articulating speech	Neužfiksuota
Normal pressure hydrocephalus	Neužfiksuota
Peripheral dysmyelination	Neužfiksuota
Peripheral nerve disease	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Clouding of the lens of the eye	Visada
Deeply set eye	Labai dažnai (80–99%)
Pigmentary retinopathy	Labai dažnai (80–99%)
Retinal pigment epithelial mottling	Labai dažnai (80–99%)
Decreased tear secretion	Dažnai (30–79%)
Optic atrophy	Dažnai (30–79%)
Retinal atrophy	Dažnai (30–79%)
Visual impairment	Dažnai (30–79%)
Absence of eyeballs	Kartais (5–29%)
Clouding of the lens of the eye at birth	Kartais (5–29%)
Cross-eyed	Kartais (5–29%)
Extreme sensitivity of the eyes to light	Kartais (5–29%)
Farsightedness	Kartais (5–29%)
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)
Uveitis	Kartais (5–29%)
Abnormally small eyeball	Retai (1–4 %)
Breakdown of light-sensitive cells in back of eye	Retai (1–4 %)
Bulging of eye lens	Retai (1–4 %)
Cornea of eye less than 10mm in diameter	Retai (1–4 %)
Corneal ulceration	Retai (1–4 %)
Optic disc pallor	Retai (1–4 %)
Retina degeneration	Retai (1–4 %)
Abnormality of visual evoked potentials	Neužfiksuota
Opacification of the corneal stroma	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Prominent nose	Visada
Thin dental enamel	Visada
Abnormal facial shape	Labai dažnai (80–99%)
Abnormally small head	Labai dažnai (80–99%)
Abnormal dentition	Dažnai (30–79%)
Big lower jaw	Dažnai (30–79%)
Dental cavities	Dažnai (30–79%)
Long face	Dažnai (30–79%)
Decreased width of baby teeth	Kartais (5–29%)
Delayed eruption of baby teeth	Kartais (5–29%)
Failure of development of all teeth	Kartais (5–29%)
Narrow nose	Kartais (5–29%)
Pink eye	Kartais (5–29%)
Progressively abnormally small cranium	Kartais (5–29%)
Short chin	Kartais (5–29%)
Wide gaps between baby teeth	Kartais (5–29%)
Dry eye syndrome	Retai (1–4 %)
Bad bite	Neužfiksuota
Decreased amount of facial fat	Neužfiksuota
Decreased size of teeth	Neužfiksuota
Increased thickness of skull cap	Neužfiksuota
Slender nose	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Joint contracture	Visada
Low muscle tone	Visada
Basal ganglia calcification	Labai dažnai (80–99%)
Cerebellar dentate nucleus calcification	Labai dažnai (80–99%)
Subcortical white matter calcifications	Labai dažnai (80–99%)
Functional motor deficit	Dažnai (30–79%)
Muscle degeneration	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Flexed joint that cannot be straightened	Kartais (5–29%)
Hunched back	Kartais (5–29%)
Low muscle tone in trunk	Kartais (5–29%)
Lower limb spasticity	Kartais (5–29%)
Scarring	Kartais (5–29%)
Hypoplastic iliac wing	Neužfiksuota
Hypoplastic pelvis	Neužfiksuota
Limitation of joint mobility	Neužfiksuota
Muscle weakness	Neužfiksuota
Square pelvis bone	Neužfiksuota

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Freckling	Visada
Photosensitive skin	Visada
Decreased ability to sweat	Dažnai (30–79%)
Premature aged appearance	Dažnai (30–79%)
Dry hair	Kartais (5–29%)
Hyperpigmented skin patches	Kartais (5–29%)
Premature graying of hair	Kartais (5–29%)
Abnormal skin pigmentation	Neužfiksuota
Atypical scarring of skin	Neužfiksuota
Dry skin	Neužfiksuota
Lack of sweating	Neužfiksuota
Prematurely aged appearance	Neužfiksuota
Reduced fat tissue below the skin	Neužfiksuota
Sparse hair	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
High blood pressure	Dažnai (30–79%)
Persistent left superior vena cava	Dažnai (30–79%)
Premature coronary artery disease	Dažnai (30–79%)
Vascular calcification	Dažnai (30–79%)
Increased blood pressure	Kartais (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Retai (1–4 %)
Disease of the heart muscle	Retai (1–4 %)
Increased spleen size	Retai (1–4 %)
Stroke	Retai (1–4 %)
Abnormal heart rate	Neužfiksuota
Thymic hormone decreased	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Undescended testes	Visada
Lack of bladder control due to nervous system injury	Dažnai (30–79%)
Hydronephrosis	Kartais (5–29%)
Hydroureter	Kartais (5–29%)
Renal failure	Kartais (5–29%)
Urinary retention	Kartais (5–29%)
Absent kidney on one side	Retai (1–4 %)
Small kidneys	Retai (1–4 %)
Menstrual irregularity	Neužfiksuota
Short penis	Neužfiksuota

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Visada
Growth delay as children	Visada
Severe short stature	Visada
Short stature	Visada
Prenatal growth deficiency	Labai dažnai (80–99%)
Mild growth deficiency	Kartais (5–29%)
Severe growth delay in children	Neužfiksuota

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Sensorineural hearing impairment	Visada
Hearing impairment	Labai dažnai (80–99%)
Adult onset sensorineural hearing impairment	Dažnai (30–79%)
Conductive deafness	Kartais (5–29%)
Large ears	Kartais (5–29%)
Abnormally shaped ears	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Diarrhea	Dažnai (30–79%)
Acid reflux	Kartais (5–29%)
Enlarged liver	Kartais (5–29%)
Feeding difficulties	Kartais (5–29%)
Feeding difficulties in infancy	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Contractures of the foot joints	Labai dažnai (80–99%)
Hip contracture	Dažnai (30–79%)
Increased muscle tone of arm or leg	Kartais (5–29%)
Increased bone density of end part of the hand bones	Neužfiksuota

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
High liver enzymes	Labai dažnai (80–99%)
Abnormality of temperature regulation	Dažnai (30–79%)
High urine protein levels	Dažnai (30–79%)
Increased blood urea nitrogen	Dažnai (30–79%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Low number of red blood cells or hemoglobin	Kartais (5–29%)
Retinal bleeding	Retai (1–4 %)
Subdural hemorrhage	Retai (1–4 %)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Decreased function of male gonad	Retai (1–4 %)
Decreased activity of gonads	Neužfiksuota

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Increased cellular sensitivity to UV light	Neužfiksuota

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.

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Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su ERCC8 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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