Tunnused

Geeniga ERCC6 seotud tunnused

ERCC excision repair 6, chromatin remodeling factor

Inimese fenotüübi ontoloogia seostab geeniga ERCC6 248 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

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

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Abnormally small head	Alati
Prominent nasal bridge	Alati
Triangular face	Alati
Abnormal facial shape	Väga sageli (80–99%)
Abnormal of nasal shape	Väga sageli (80–99%)
Drooping lower lip	Väga sageli (80–99%)
Little lower jaw	Väga sageli (80–99%)
Prominent metopic ridge	Väga sageli (80–99%)
Wide nasal bridge	Väga sageli (80–99%)
Abnormal dentition	Sageli (30–79%)
Big lower jaw	Sageli (30–79%)
Delayed eruption of teeth	Sageli (30–79%)
Dental cavities	Sageli (30–79%)
Long face	Sageli (30–79%)
Prominent nose	Sageli (30–79%)
Short neck	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%)
Thin dental enamel	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
Decreased volume of lip	Pole registreeritud
Everted eyelid	Pole registreeritud
Eyelid folded in	Pole registreeritud
Increased thickness of skull cap	Pole registreeritud
Long philtrum	Pole registreeritud
Narrow opening between the eyelids	Pole registreeritud
Slender nose	Pole registreeritud
Sloping forehead	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Abnormally small eyeball	Alati
Deeply set eye	Alati
Clouding of the lens of the eye	Väga sageli (80–99%)
Pigmentary retinopathy	Väga sageli (80–99%)
Clouding of the lens of the eye at birth	Sageli (30–79%)
Constricted pupils	Sageli (30–79%)
Cross-eyed	Sageli (30–79%)
Decreased tear secretion	Sageli (30–79%)
Optic atrophy	Sageli (30–79%)
Visual impairment	Sageli (30–79%)
Abnormal retinal pigmentation	Mõnikord (5–29%)
Absence of eyeballs	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%)
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%)
Retinal atrophy	Harva (1–4%)
Abnormality of visual evoked potentials	Pole registreeritud
Corneal inflammation	Pole registreeritud
Opacification of the corneal stroma	Pole registreeritud
Underdeveloped iris	Pole registreeritud

Abnormality of the musculoskeletal system

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

Abnormality of the integument

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

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Equinovarus deformity	Alati
Contractures of the foot joints	Väga sageli (80–99%)
Permanent flexion of the finger	Väga sageli (80–99%)
Bilateral coxa valga	Sageli (30–79%)
Increased muscle tone of arm or leg	Mõnikord (5–29%)
Talipes	Mõnikord (5–29%)
Coxa valga	Pole registreeritud
Elbow flexion contracture	Pole registreeritud
Foot crease	Pole registreeritud
Inability to straighten knee	Pole registreeritud
Increased bone density of end part of the hand bones	Pole registreeritud
Joint contracture of the hand	Pole registreeritud
Rocker bottom foot	Pole registreeritud
Second metatarsal posteriorly placed	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Bilateral cryptorchidism	Alati
Previous menstrual periods stop	Alati
Short penis	Alati
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%)
Light or infrequent menstrual periods	Pole registreeritud
Underdeveloped gonad	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Spider veins	Alati
High blood pressure	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

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Alati
Prenatal growth deficiency	Alati
Small for gestational age	Alati
Growth delay as children	Väga sageli (80–99%)
Short stature	Väga sageli (80–99%)
Severe short stature	Sageli (30–79%)
Mild growth deficiency	Mõnikord (5–29%)
Severe faltering weight	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Decreased CSF 5-hydroxyindolacetic acid concentration	Alati
High liver enzymes	Väga sageli (80–99%)
Abnormality of temperature regulation	Sageli (30–79%)
Body fails to respond to insulin	Sageli (30–79%)
Dehydration	Sageli (30–79%)
High urine protein levels	Sageli (30–79%)
Increased blood urea nitrogen	Sageli (30–79%)
Metabolic acidosis	Sageli (30–79%)

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%)
Abnormality of the ear	Pole registreeritud
Abnormally shaped ears	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Feeding difficulties in infancy	Väga sageli (80–99%)
Diarrhea	Sageli (30–79%)
Acid reflux	Mõnikord (5–29%)
Enlarged liver	Mõnikord (5–29%)
Feeding difficulties	Mõnikord (5–29%)

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 activity of gonads	Sageli (30–79%)
Decreased function of male gonad	Harva (1–4%)
Elevated circulating follicle stimulating hormone level	Pole registreeritud

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Alveolar cell carcinoma	Pole registreeritud
Lung adenocarcinoma	Pole registreeritud
Non-small cell lung carcinoma	Pole registreeritud

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Defective DNA repair after ultraviolet radiation damage	Pole registreeritud
Increased cellular sensitivity to UV light	Pole registreeritud

Abnormal tissue mass

Tunnus	Kui sageli seda täheldatakse
Abnormal tissue mass	Pole registreeritud
Cancer of skin pigment cells	Pole registreeritud

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Recurrent pneumonia	Alati
Abnormality of immune system physiology	Sageli (30–79%)

Abnormality of the breast

Tunnus	Kui sageli seda täheldatakse
Wide-spaced nipples	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 ERCC6 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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