Trăsături

Trăsături asociate cu ERCC6

ERCC excision repair 6, chromatin remodeling factor

Human Phenotype Ontology asociază 248 trăsături cu ERCC6, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Babinski sign	Întotdeauna
Decreased reflex response	Întotdeauna
Gliosis	Întotdeauna
Global developmental delay	Întotdeauna
Intellectual disability	Întotdeauna
Leukodystrophy	Întotdeauna
Mental deterioration	Întotdeauna
Olivopontocerebellar atrophy	Întotdeauna
Peripheral nerve disease	Întotdeauna
Abnormal myelination	Foarte des (80–99%)
Absent brainstem auditory responses	Foarte des (80–99%)
Absent/small cerebellum	Foarte des (80–99%)
Astrocytosis	Foarte des (80–99%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Foarte des (80–99%)
Neurodevelopmental delay	Foarte des (80–99%)
Patchy demyelination of subcortical white matter	Foarte des (80–99%)
Severe global developmental delay	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%)
Axonal degeneration	Des (30–79%)
Balance impairment	Des (30–79%)
Brain degeneration	Des (30–79%)
Cerebral white matter atrophy	Des (30–79%)
CNS demyelination	Des (30–79%)
Degeneration of cerebellum	Des (30–79%)
Degeneration of cerebrum	Des (30–79%)
Demyelinating peripheral neuropathy	Des (30–79%)
Diffuse cerebral atrophy	Des (30–79%)
Diminished deep tendon reflex	Des (30–79%)
Epilepsy	Des (30–79%)
Generalized brain degeneration	Des (30–79%)
Grand mal seizures	Des (30–79%)
Increased reflexes	Des (30–79%)
Intellectual disability, mild	Des (30–79%)
Intention tremor	Des (30–79%)
Ongoing loss of nerve cells	Des (30–79%)
Peripheral axonal neuropathy	Des (30–79%)
Peripheral neuropathy	Des (30–79%)
Tremor	Des (30–79%)
Unsteady walk	Des (30–79%)
Ventriculomegaly	Des (30–79%)
Worsening neurological symptoms	Des (30–79%)
Cognitive impairment	Uneori (5–29%)
Difficulty sleeping	Uneori (5–29%)
Abnormal auditory evoked potentials	Neînregistrat
Abnormal peripheral myelination	Neînregistrat
Agenesis of corpus callosum	Neînregistrat
Choreoathetosis	Neînregistrat
Decreased nerve conduction velocity	Neînregistrat
Delayed myelination	Neînregistrat
IQ less than 20	Neînregistrat
Normal pressure hydrocephalus	Neînregistrat
Peripheral dysmyelination	Neînregistrat
Small cerebellum	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormally small head	Întotdeauna
Prominent nasal bridge	Întotdeauna
Triangular face	Întotdeauna
Abnormal facial shape	Foarte des (80–99%)
Abnormal of nasal shape	Foarte des (80–99%)
Drooping lower lip	Foarte des (80–99%)
Little lower jaw	Foarte des (80–99%)
Prominent metopic ridge	Foarte des (80–99%)
Wide nasal bridge	Foarte des (80–99%)
Abnormal dentition	Des (30–79%)
Big lower jaw	Des (30–79%)
Delayed eruption of teeth	Des (30–79%)
Dental cavities	Des (30–79%)
Long face	Des (30–79%)
Prominent nose	Des (30–79%)
Short neck	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%)
Thin dental enamel	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
Decreased volume of lip	Neînregistrat
Everted eyelid	Neînregistrat
Eyelid folded in	Neînregistrat
Increased thickness of skull cap	Neînregistrat
Long philtrum	Neînregistrat
Narrow opening between the eyelids	Neînregistrat
Slender nose	Neînregistrat
Sloping forehead	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormally small eyeball	Întotdeauna
Deeply set eye	Întotdeauna
Clouding of the lens of the eye	Foarte des (80–99%)
Pigmentary retinopathy	Foarte des (80–99%)
Clouding of the lens of the eye at birth	Des (30–79%)
Constricted pupils	Des (30–79%)
Cross-eyed	Des (30–79%)
Decreased tear secretion	Des (30–79%)
Optic atrophy	Des (30–79%)
Visual impairment	Des (30–79%)
Abnormal retinal pigmentation	Uneori (5–29%)
Absence of eyeballs	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%)
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%)
Retinal atrophy	Rar (1–4%)
Abnormality of visual evoked potentials	Neînregistrat
Corneal inflammation	Neînregistrat
Opacification of the corneal stroma	Neînregistrat
Underdeveloped iris	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone in trunk	Întotdeauna
Abnormal deposits of calcium in the brain	Foarte des (80–99%)
Arthrogryposis multiplex congenita	Foarte des (80–99%)
Basal ganglia calcification	Foarte des (80–99%)
Cerebellar dentate nucleus calcification	Foarte des (80–99%)
Joint stiffness	Foarte des (80–99%)
Low muscle tone	Foarte des (80–99%)
Spasticity and rigidity of muscles	Foarte des (80–99%)
Subcortical white matter calcifications	Foarte des (80–99%)
Flexed joint that cannot be straightened	Des (30–79%)
Functional motor deficit	Des (30–79%)
Hunched back	Des (30–79%)
Muscle degeneration	Des (30–79%)
Scissor gait	Des (30–79%)
Scoliosis	Des (30–79%)
Lower limb spasticity	Uneori (5–29%)
Scarring	Uneori (5–29%)
Cerebellar calcifications	Neînregistrat
Hypoplastic iliac wing	Neînregistrat
Hypoplastic pelvis	Neînregistrat
Involuntary muscle stiffness, contraction, or spasm	Neînregistrat
Kyphoscoliosis	Neînregistrat
Limitation of joint mobility	Neînregistrat
Muscle weakness	Neînregistrat
Osteoporosis	Neînregistrat
Permanent flexion of the finger or toe	Neînregistrat
Square pelvis bone	Neînregistrat

Abnormality of the integument

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

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Equinovarus deformity	Întotdeauna
Contractures of the foot joints	Foarte des (80–99%)
Permanent flexion of the finger	Foarte des (80–99%)
Bilateral coxa valga	Des (30–79%)
Increased muscle tone of arm or leg	Uneori (5–29%)
Talipes	Uneori (5–29%)
Coxa valga	Neînregistrat
Elbow flexion contracture	Neînregistrat
Foot crease	Neînregistrat
Inability to straighten knee	Neînregistrat
Increased bone density of end part of the hand bones	Neînregistrat
Joint contracture of the hand	Neînregistrat
Rocker bottom foot	Neînregistrat
Second metatarsal posteriorly placed	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Bilateral cryptorchidism	Întotdeauna
Previous menstrual periods stop	Întotdeauna
Short penis	Întotdeauna
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%)
Light or infrequent menstrual periods	Neînregistrat
Underdeveloped gonad	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Spider veins	Întotdeauna
High blood pressure	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

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Întotdeauna
Prenatal growth deficiency	Întotdeauna
Small for gestational age	Întotdeauna
Growth delay as children	Foarte des (80–99%)
Short stature	Foarte des (80–99%)
Severe short stature	Des (30–79%)
Mild growth deficiency	Uneori (5–29%)
Severe faltering weight	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Decreased CSF 5-hydroxyindolacetic acid concentration	Întotdeauna
High liver enzymes	Foarte des (80–99%)
Abnormality of temperature regulation	Des (30–79%)
Body fails to respond to insulin	Des (30–79%)
Dehydration	Des (30–79%)
High urine protein levels	Des (30–79%)
Increased blood urea nitrogen	Des (30–79%)
Metabolic acidosis	Des (30–79%)

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%)
Abnormality of the ear	Neînregistrat
Abnormally shaped ears	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties in infancy	Foarte des (80–99%)
Diarrhea	Des (30–79%)
Acid reflux	Uneori (5–29%)
Enlarged liver	Uneori (5–29%)
Feeding difficulties	Uneori (5–29%)

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 activity of gonads	Des (30–79%)
Decreased function of male gonad	Rar (1–4%)
Elevated circulating follicle stimulating hormone level	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Alveolar cell carcinoma	Neînregistrat
Lung adenocarcinoma	Neînregistrat
Non-small cell lung carcinoma	Neînregistrat

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Defective DNA repair after ultraviolet radiation damage	Neînregistrat
Increased cellular sensitivity to UV light	Neînregistrat

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Abnormal tissue mass	Neînregistrat
Cancer of skin pigment cells	Neînregistrat

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent pneumonia	Întotdeauna
Abnormality of immune system physiology	Des (30–79%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Wide-spaced nipples	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 ERCC6 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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