Trăsături

Trăsături asociate cu ERCC8

ERCC excision repair 8, CSA ubiquitin ligase complex subunit

Human Phenotype Ontology asociază 168 trăsături cu ERCC8, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

ERCC8

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Global developmental delay	Întotdeauna
Abnormal myelination	Foarte des (80–99%)
Absent brainstem auditory responses	Foarte des (80–99%)
Astrocytosis	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Neurodevelopmental delay	Foarte des (80–99%)
Patchy demyelination of subcortical white matter	Foarte des (80–99%)
Ventriculomegaly	Foarte des (80–99%)
Abnormal gait	Des (30–79%)
Abnormality of peripheral nerve conduction	Des (30–79%)
Absent reflexes	Des (30–79%)
Ataxia	Des (30–79%)
Balance impairment	Des (30–79%)
Brain degeneration	Des (30–79%)
Cerebral white matter atrophy	Des (30–79%)
Degeneration of cerebellum	Des (30–79%)
Degeneration of cerebrum	Des (30–79%)
Demyelinating peripheral neuropathy	Des (30–79%)
Epilepsy	Des (30–79%)
Increased reflexes	Des (30–79%)
Intellectual disability, mild	Des (30–79%)
Intention tremor	Des (30–79%)
Peripheral axonal neuropathy	Des (30–79%)
Peripheral neuropathy	Des (30–79%)
Tremor	Des (30–79%)
Unsteady walk	Des (30–79%)
Cognitive impairment	Uneori (5–29%)
Difficulty sleeping	Uneori (5–29%)
Worsening neurological symptoms	Uneori (5–29%)
Abnormal auditory evoked potentials	Neînregistrat
Abnormal peripheral myelination	Neînregistrat
Decreased nerve conduction velocity	Neînregistrat
Dementia	Neînregistrat
Difficulty articulating speech	Neînregistrat
Normal pressure hydrocephalus	Neînregistrat
Peripheral dysmyelination	Neînregistrat
Peripheral nerve disease	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Clouding of the lens of the eye	Întotdeauna
Deeply set eye	Foarte des (80–99%)
Pigmentary retinopathy	Foarte des (80–99%)
Retinal pigment epithelial mottling	Foarte des (80–99%)
Decreased tear secretion	Des (30–79%)
Optic atrophy	Des (30–79%)
Retinal atrophy	Des (30–79%)
Visual impairment	Des (30–79%)
Absence of eyeballs	Uneori (5–29%)
Clouding of the lens of the eye at birth	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Extreme sensitivity of the eyes to light	Uneori (5–29%)
Farsightedness	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Uveitis	Uneori (5–29%)
Abnormally small eyeball	Rar (1–4%)
Breakdown of light-sensitive cells in back of eye	Rar (1–4%)
Bulging of eye lens	Rar (1–4%)
Cornea of eye less than 10mm in diameter	Rar (1–4%)
Corneal ulceration	Rar (1–4%)
Optic disc pallor	Rar (1–4%)
Retina degeneration	Rar (1–4%)
Abnormality of visual evoked potentials	Neînregistrat
Opacification of the corneal stroma	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Prominent nose	Întotdeauna
Thin dental enamel	Întotdeauna
Abnormal facial shape	Foarte des (80–99%)
Abnormally small head	Foarte des (80–99%)
Abnormal dentition	Des (30–79%)
Big lower jaw	Des (30–79%)
Dental cavities	Des (30–79%)
Long face	Des (30–79%)
Decreased width of baby teeth	Uneori (5–29%)
Delayed eruption of baby teeth	Uneori (5–29%)
Failure of development of all teeth	Uneori (5–29%)
Narrow nose	Uneori (5–29%)
Pink eye	Uneori (5–29%)
Progressively abnormally small cranium	Uneori (5–29%)
Short chin	Uneori (5–29%)
Wide gaps between baby teeth	Uneori (5–29%)
Dry eye syndrome	Rar (1–4%)
Bad bite	Neînregistrat
Decreased amount of facial fat	Neînregistrat
Decreased size of teeth	Neînregistrat
Increased thickness of skull cap	Neînregistrat
Slender nose	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Joint contracture	Întotdeauna
Low muscle tone	Întotdeauna
Basal ganglia calcification	Foarte des (80–99%)
Cerebellar dentate nucleus calcification	Foarte des (80–99%)
Subcortical white matter calcifications	Foarte des (80–99%)
Functional motor deficit	Des (30–79%)
Muscle degeneration	Des (30–79%)
Scoliosis	Des (30–79%)
Flexed joint that cannot be straightened	Uneori (5–29%)
Hunched back	Uneori (5–29%)
Low muscle tone in trunk	Uneori (5–29%)
Lower limb spasticity	Uneori (5–29%)
Scarring	Uneori (5–29%)
Hypoplastic iliac wing	Neînregistrat
Hypoplastic pelvis	Neînregistrat
Limitation of joint mobility	Neînregistrat
Muscle weakness	Neînregistrat
Square pelvis bone	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Freckling	Întotdeauna
Photosensitive skin	Întotdeauna
Decreased ability to sweat	Des (30–79%)
Premature aged appearance	Des (30–79%)
Dry hair	Uneori (5–29%)
Hyperpigmented skin patches	Uneori (5–29%)
Premature graying of hair	Uneori (5–29%)
Abnormal skin pigmentation	Neînregistrat
Atypical scarring of skin	Neînregistrat
Dry skin	Neînregistrat
Lack of sweating	Neînregistrat
Prematurely aged appearance	Neînregistrat
Reduced fat tissue below the skin	Neînregistrat
Sparse hair	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
High blood pressure	Des (30–79%)
Persistent left superior vena cava	Des (30–79%)
Premature coronary artery disease	Des (30–79%)
Vascular calcification	Des (30–79%)
Increased blood pressure	Uneori (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Rar (1–4%)
Disease of the heart muscle	Rar (1–4%)
Increased spleen size	Rar (1–4%)
Stroke	Rar (1–4%)
Abnormal heart rate	Neînregistrat
Thymic hormone decreased	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Undescended testes	Întotdeauna
Lack of bladder control due to nervous system injury	Des (30–79%)
Hydronephrosis	Uneori (5–29%)
Hydroureter	Uneori (5–29%)
Renal failure	Uneori (5–29%)
Urinary retention	Uneori (5–29%)
Absent kidney on one side	Rar (1–4%)
Small kidneys	Rar (1–4%)
Menstrual irregularity	Neînregistrat
Short penis	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Întotdeauna
Growth delay as children	Întotdeauna
Severe short stature	Întotdeauna
Short stature	Întotdeauna
Prenatal growth deficiency	Foarte des (80–99%)
Mild growth deficiency	Uneori (5–29%)
Severe growth delay in children	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Sensorineural hearing impairment	Întotdeauna
Hearing impairment	Foarte des (80–99%)
Adult onset sensorineural hearing impairment	Des (30–79%)
Conductive deafness	Uneori (5–29%)
Large ears	Uneori (5–29%)
Abnormally shaped ears	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Diarrhea	Des (30–79%)
Acid reflux	Uneori (5–29%)
Enlarged liver	Uneori (5–29%)
Feeding difficulties	Uneori (5–29%)
Feeding difficulties in infancy	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Contractures of the foot joints	Foarte des (80–99%)
Hip contracture	Des (30–79%)
Increased muscle tone of arm or leg	Uneori (5–29%)
Increased bone density of end part of the hand bones	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
High liver enzymes	Foarte des (80–99%)
Abnormality of temperature regulation	Des (30–79%)
High urine protein levels	Des (30–79%)
Increased blood urea nitrogen	Des (30–79%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Low number of red blood cells or hemoglobin	Uneori (5–29%)
Retinal bleeding	Rar (1–4%)
Subdural hemorrhage	Rar (1–4%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Decreased function of male gonad	Rar (1–4%)
Decreased activity of gonads	Neînregistrat

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Increased cellular sensitivity to UV light	Neînregistrat

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 ERCC8 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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