Požymiai

Su ERCC6 susiję požymiai

ERCC excision repair 6, chromatin remodeling factor

Žmogaus fenotipo ontologija sieja 248 požymių su ERCC6, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the nervous system

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

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Abnormally small head	Visada
Prominent nasal bridge	Visada
Triangular face	Visada
Abnormal facial shape	Labai dažnai (80–99%)
Abnormal of nasal shape	Labai dažnai (80–99%)
Drooping lower lip	Labai dažnai (80–99%)
Little lower jaw	Labai dažnai (80–99%)
Prominent metopic ridge	Labai dažnai (80–99%)
Wide nasal bridge	Labai dažnai (80–99%)
Abnormal dentition	Dažnai (30–79%)
Big lower jaw	Dažnai (30–79%)
Delayed eruption of teeth	Dažnai (30–79%)
Dental cavities	Dažnai (30–79%)
Long face	Dažnai (30–79%)
Prominent nose	Dažnai (30–79%)
Short neck	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%)
Thin dental enamel	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
Decreased volume of lip	Neužfiksuota
Everted eyelid	Neužfiksuota
Eyelid folded in	Neužfiksuota
Increased thickness of skull cap	Neužfiksuota
Long philtrum	Neužfiksuota
Narrow opening between the eyelids	Neužfiksuota
Slender nose	Neužfiksuota
Sloping forehead	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Abnormally small eyeball	Visada
Deeply set eye	Visada
Clouding of the lens of the eye	Labai dažnai (80–99%)
Pigmentary retinopathy	Labai dažnai (80–99%)
Clouding of the lens of the eye at birth	Dažnai (30–79%)
Constricted pupils	Dažnai (30–79%)
Cross-eyed	Dažnai (30–79%)
Decreased tear secretion	Dažnai (30–79%)
Optic atrophy	Dažnai (30–79%)
Visual impairment	Dažnai (30–79%)
Abnormal retinal pigmentation	Kartais (5–29%)
Absence of eyeballs	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%)
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 %)
Retinal atrophy	Retai (1–4 %)
Abnormality of visual evoked potentials	Neužfiksuota
Corneal inflammation	Neužfiksuota
Opacification of the corneal stroma	Neužfiksuota
Underdeveloped iris	Neužfiksuota

Abnormality of the musculoskeletal system

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

Abnormality of the integument

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

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Equinovarus deformity	Visada
Contractures of the foot joints	Labai dažnai (80–99%)
Permanent flexion of the finger	Labai dažnai (80–99%)
Bilateral coxa valga	Dažnai (30–79%)
Increased muscle tone of arm or leg	Kartais (5–29%)
Talipes	Kartais (5–29%)
Coxa valga	Neužfiksuota
Elbow flexion contracture	Neužfiksuota
Foot crease	Neužfiksuota
Inability to straighten knee	Neužfiksuota
Increased bone density of end part of the hand bones	Neužfiksuota
Joint contracture of the hand	Neužfiksuota
Rocker bottom foot	Neužfiksuota
Second metatarsal posteriorly placed	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Bilateral cryptorchidism	Visada
Previous menstrual periods stop	Visada
Short penis	Visada
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 %)
Light or infrequent menstrual periods	Neužfiksuota
Underdeveloped gonad	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Spider veins	Visada
High blood pressure	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

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Visada
Prenatal growth deficiency	Visada
Small for gestational age	Visada
Growth delay as children	Labai dažnai (80–99%)
Short stature	Labai dažnai (80–99%)
Severe short stature	Dažnai (30–79%)
Mild growth deficiency	Kartais (5–29%)
Severe faltering weight	Neužfiksuota

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Decreased CSF 5-hydroxyindolacetic acid concentration	Visada
High liver enzymes	Labai dažnai (80–99%)
Abnormality of temperature regulation	Dažnai (30–79%)
Body fails to respond to insulin	Dažnai (30–79%)
Dehydration	Dažnai (30–79%)
High urine protein levels	Dažnai (30–79%)
Increased blood urea nitrogen	Dažnai (30–79%)
Metabolic acidosis	Dažnai (30–79%)

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%)
Abnormality of the ear	Neužfiksuota
Abnormally shaped ears	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Feeding difficulties in infancy	Labai dažnai (80–99%)
Diarrhea	Dažnai (30–79%)
Acid reflux	Kartais (5–29%)
Enlarged liver	Kartais (5–29%)
Feeding difficulties	Kartais (5–29%)

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 activity of gonads	Dažnai (30–79%)
Decreased function of male gonad	Retai (1–4 %)
Elevated circulating follicle stimulating hormone level	Neužfiksuota

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Alveolar cell carcinoma	Neužfiksuota
Lung adenocarcinoma	Neužfiksuota
Non-small cell lung carcinoma	Neužfiksuota

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Defective DNA repair after ultraviolet radiation damage	Neužfiksuota
Increased cellular sensitivity to UV light	Neužfiksuota

Abnormal tissue mass

Požymis	Kaip dažnai pasireiškia
Abnormal tissue mass	Neužfiksuota
Cancer of skin pigment cells	Neužfiksuota

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Recurrent pneumonia	Visada
Abnormality of immune system physiology	Dažnai (30–79%)

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Wide-spaced nipples	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.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su ERCC6 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

Vienas testas. Atsakymai visam gyvenimui.

Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites

Įsigyti savo Genome Test