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Egenskaper

Egenskaper kopplade till ERCC8

ERCC excision repair 8, CSA ubiquitin ligase complex subunit

Human Phenotype Ontology kopplar 168 egenskaper till ERCC8, sorterade efter kroppssystem: drag som ses hos personer med ett av genens sällsynta tillstånd.

Abnormality of the nervous system

EgenskapHur ofta den förekommer
Global developmental delayAlltid
Abnormal myelinationMycket ofta (80–99 %)
Absent brainstem auditory responsesMycket ofta (80–99 %)
AstrocytosisMycket ofta (80–99 %)
Intellectual disabilityMycket ofta (80–99 %)
Neurodevelopmental delayMycket ofta (80–99 %)
Patchy demyelination of subcortical white matterMycket ofta (80–99 %)
VentriculomegalyMycket ofta (80–99 %)
Abnormal gaitOfta (30–79 %)
Abnormality of peripheral nerve conductionOfta (30–79 %)
Absent reflexesOfta (30–79 %)
AtaxiaOfta (30–79 %)
Balance impairmentOfta (30–79 %)
Brain degenerationOfta (30–79 %)
Cerebral white matter atrophyOfta (30–79 %)
Degeneration of cerebellumOfta (30–79 %)
Degeneration of cerebrumOfta (30–79 %)
Demyelinating peripheral neuropathyOfta (30–79 %)
EpilepsyOfta (30–79 %)
Increased reflexesOfta (30–79 %)
Intellectual disability, mildOfta (30–79 %)
Intention tremorOfta (30–79 %)
Peripheral axonal neuropathyOfta (30–79 %)
Peripheral neuropathyOfta (30–79 %)
TremorOfta (30–79 %)
Unsteady walkOfta (30–79 %)
Cognitive impairmentIbland (5–29 %)
Difficulty sleepingIbland (5–29 %)
Worsening neurological symptomsIbland (5–29 %)
Abnormal auditory evoked potentialsInte registrerat
Abnormal peripheral myelinationInte registrerat
Decreased nerve conduction velocityInte registrerat
DementiaInte registrerat
Difficulty articulating speechInte registrerat
Normal pressure hydrocephalusInte registrerat
Peripheral dysmyelinationInte registrerat
Peripheral nerve diseaseInte registrerat

Abnormality of the eye

EgenskapHur ofta den förekommer
Clouding of the lens of the eyeAlltid
Deeply set eyeMycket ofta (80–99 %)
Pigmentary retinopathyMycket ofta (80–99 %)
Retinal pigment epithelial mottlingMycket ofta (80–99 %)
Decreased tear secretionOfta (30–79 %)
Optic atrophyOfta (30–79 %)
Retinal atrophyOfta (30–79 %)
Visual impairmentOfta (30–79 %)
Absence of eyeballsIbland (5–29 %)
Clouding of the lens of the eye at birthIbland (5–29 %)
Cross-eyedIbland (5–29 %)
Extreme sensitivity of the eyes to lightIbland (5–29 %)
FarsightednessIbland (5–29 %)
Involuntary, rapid, rhythmic eye movementsIbland (5–29 %)
UveitisIbland (5–29 %)
Abnormally small eyeballSällan (1–4%)
Breakdown of light-sensitive cells in back of eyeSällan (1–4%)
Bulging of eye lensSällan (1–4%)
Cornea of eye less than 10mm in diameterSällan (1–4%)
Corneal ulcerationSällan (1–4%)
Optic disc pallorSällan (1–4%)
Retina degenerationSällan (1–4%)
Abnormality of visual evoked potentialsInte registrerat
Opacification of the corneal stromaInte registrerat

Abnormality of head or neck

EgenskapHur ofta den förekommer
Prominent noseAlltid
Thin dental enamelAlltid
Abnormal facial shapeMycket ofta (80–99 %)
Abnormally small headMycket ofta (80–99 %)
Abnormal dentitionOfta (30–79 %)
Big lower jawOfta (30–79 %)
Dental cavitiesOfta (30–79 %)
Long faceOfta (30–79 %)
Decreased width of baby teethIbland (5–29 %)
Delayed eruption of baby teethIbland (5–29 %)
Failure of development of all teethIbland (5–29 %)
Narrow noseIbland (5–29 %)
Pink eyeIbland (5–29 %)
Progressively abnormally small craniumIbland (5–29 %)
Short chinIbland (5–29 %)
Wide gaps between baby teethIbland (5–29 %)
Dry eye syndromeSällan (1–4%)
Bad biteInte registrerat
Decreased amount of facial fatInte registrerat
Decreased size of teethInte registrerat
Increased thickness of skull capInte registrerat
Slender noseInte registrerat

Abnormality of the musculoskeletal system

EgenskapHur ofta den förekommer
Joint contractureAlltid
Low muscle toneAlltid
Basal ganglia calcificationMycket ofta (80–99 %)
Cerebellar dentate nucleus calcificationMycket ofta (80–99 %)
Subcortical white matter calcificationsMycket ofta (80–99 %)
Functional motor deficitOfta (30–79 %)
Muscle degenerationOfta (30–79 %)
ScoliosisOfta (30–79 %)
Flexed joint that cannot be straightenedIbland (5–29 %)
Hunched backIbland (5–29 %)
Low muscle tone in trunkIbland (5–29 %)
Lower limb spasticityIbland (5–29 %)
ScarringIbland (5–29 %)
Hypoplastic iliac wingInte registrerat
Hypoplastic pelvisInte registrerat
Limitation of joint mobilityInte registrerat
Muscle weaknessInte registrerat
Square pelvis boneInte registrerat

Abnormality of the integument

EgenskapHur ofta den förekommer
FrecklingAlltid
Photosensitive skinAlltid
Decreased ability to sweatOfta (30–79 %)
Premature aged appearanceOfta (30–79 %)
Dry hairIbland (5–29 %)
Hyperpigmented skin patchesIbland (5–29 %)
Premature graying of hairIbland (5–29 %)
Abnormal skin pigmentationInte registrerat
Atypical scarring of skinInte registrerat
Dry skinInte registrerat
Lack of sweatingInte registrerat
Prematurely aged appearanceInte registrerat
Reduced fat tissue below the skinInte registrerat
Sparse hairInte registrerat

Abnormality of the cardiovascular system

EgenskapHur ofta den förekommer
High blood pressureOfta (30–79 %)
Persistent left superior vena cavaOfta (30–79 %)
Premature coronary artery diseaseOfta (30–79 %)
Vascular calcificationOfta (30–79 %)
Increased blood pressureIbland (5–29 %)
Bulge in wall of root of large artery that carries blood away from heartSällan (1–4%)
Disease of the heart muscleSällan (1–4%)
Increased spleen sizeSällan (1–4%)
StrokeSällan (1–4%)
Abnormal heart rateInte registrerat
Thymic hormone decreasedInte registrerat

Abnormality of the genitourinary system

EgenskapHur ofta den förekommer
Undescended testesAlltid
Lack of bladder control due to nervous system injuryOfta (30–79 %)
HydronephrosisIbland (5–29 %)
HydroureterIbland (5–29 %)
Renal failureIbland (5–29 %)
Urinary retentionIbland (5–29 %)
Absent kidney on one sideSällan (1–4%)
Small kidneysSällan (1–4%)
Menstrual irregularityInte registrerat
Short penisInte registrerat

Growth abnormality

EgenskapHur ofta den förekommer
Faltering weightAlltid
Growth delay as childrenAlltid
Severe short statureAlltid
Short statureAlltid
Prenatal growth deficiencyMycket ofta (80–99 %)
Mild growth deficiencyIbland (5–29 %)
Severe growth delay in childrenInte registrerat

Abnormality of the ear

EgenskapHur ofta den förekommer
Sensorineural hearing impairmentAlltid
Hearing impairmentMycket ofta (80–99 %)
Adult onset sensorineural hearing impairmentOfta (30–79 %)
Conductive deafnessIbland (5–29 %)
Large earsIbland (5–29 %)
Abnormally shaped earsInte registrerat

Abnormality of the digestive system

EgenskapHur ofta den förekommer
DiarrheaOfta (30–79 %)
Acid refluxIbland (5–29 %)
Enlarged liverIbland (5–29 %)
Feeding difficultiesIbland (5–29 %)
Feeding difficulties in infancyIbland (5–29 %)

Abnormality of limbs

EgenskapHur ofta den förekommer
Contractures of the foot jointsMycket ofta (80–99 %)
Hip contractureOfta (30–79 %)
Increased muscle tone of arm or legIbland (5–29 %)
Increased bone density of end part of the hand bonesInte registrerat

Laboratory abnormality

EgenskapHur ofta den förekommer
High liver enzymesMycket ofta (80–99 %)
Abnormality of temperature regulationOfta (30–79 %)
High urine protein levelsOfta (30–79 %)
Increased blood urea nitrogenOfta (30–79 %)

Abnormality of blood and blood-forming tissues

EgenskapHur ofta den förekommer
Low number of red blood cells or hemoglobinIbland (5–29 %)
Retinal bleedingSällan (1–4%)
Subdural hemorrhageSällan (1–4%)

Abnormality of the endocrine system

EgenskapHur ofta den förekommer
Decreased function of male gonadSällan (1–4%)
Decreased activity of gonadsInte registrerat

Abnormal cellular phenotype

EgenskapHur ofta den förekommer
Increased cellular sensitivity to UV lightInte registrerat

Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.

Varifrån informationen kommer

  • Human Phenotype Ontology, version 2026-09-01: egenskaperna som kopplas till ERCC8 och hur ofta varje egenskap ses. Läs mer på hpo.jax.org.

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