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Traits
Traits linked to ERCC8
ERCC excision repair 8, CSA ubiquitin ligase complex subunit
The Human Phenotype Ontology links 168 traits to ERCC8, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the nervous system
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Clouding of the lens of the eye | Always |
| Deeply set eye | Very often (80–99%) |
| Pigmentary retinopathy | Very often (80–99%) |
| Retinal pigment epithelial mottling | Very often (80–99%) |
| Decreased tear secretion | Often (30–79%) |
| Optic atrophy | Often (30–79%) |
| Retinal atrophy | Often (30–79%) |
| Visual impairment | Often (30–79%) |
| Absence of eyeballs | Sometimes (5–29%) |
| Clouding of the lens of the eye at birth | Sometimes (5–29%) |
| Cross-eyed | Sometimes (5–29%) |
| Extreme sensitivity of the eyes to light | Sometimes (5–29%) |
| Farsightedness | Sometimes (5–29%) |
| Involuntary, rapid, rhythmic eye movements | Sometimes (5–29%) |
| Uveitis | Sometimes (5–29%) |
| Abnormally small eyeball | Rarely (1–4%) |
| Breakdown of light-sensitive cells in back of eye | Rarely (1–4%) |
| Bulging of eye lens | Rarely (1–4%) |
| Cornea of eye less than 10mm in diameter | Rarely (1–4%) |
| Corneal ulceration | Rarely (1–4%) |
| Optic disc pallor | Rarely (1–4%) |
| Retina degeneration | Rarely (1–4%) |
| Abnormality of visual evoked potentials | Not recorded |
| Opacification of the corneal stroma | Not recorded |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Prominent nose | Always |
| Thin dental enamel | Always |
| Abnormal facial shape | Very often (80–99%) |
| Abnormally small head | Very often (80–99%) |
| Abnormal dentition | Often (30–79%) |
| Big lower jaw | Often (30–79%) |
| Dental cavities | Often (30–79%) |
| Long face | Often (30–79%) |
| Decreased width of baby teeth | Sometimes (5–29%) |
| Delayed eruption of baby teeth | Sometimes (5–29%) |
| Failure of development of all teeth | Sometimes (5–29%) |
| Narrow nose | Sometimes (5–29%) |
| Pink eye | Sometimes (5–29%) |
| Progressively abnormally small cranium | Sometimes (5–29%) |
| Short chin | Sometimes (5–29%) |
| Wide gaps between baby teeth | Sometimes (5–29%) |
| Dry eye syndrome | Rarely (1–4%) |
| Bad bite | Not recorded |
| Decreased amount of facial fat | Not recorded |
| Decreased size of teeth | Not recorded |
| Increased thickness of skull cap | Not recorded |
| Slender nose | Not recorded |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Joint contracture | Always |
| Low muscle tone | Always |
| Basal ganglia calcification | Very often (80–99%) |
| Cerebellar dentate nucleus calcification | Very often (80–99%) |
| Subcortical white matter calcifications | Very often (80–99%) |
| Functional motor deficit | Often (30–79%) |
| Muscle degeneration | Often (30–79%) |
| Scoliosis | Often (30–79%) |
| Flexed joint that cannot be straightened | Sometimes (5–29%) |
| Hunched back | Sometimes (5–29%) |
| Low muscle tone in trunk | Sometimes (5–29%) |
| Lower limb spasticity | Sometimes (5–29%) |
| Scarring | Sometimes (5–29%) |
| Hypoplastic iliac wing | Not recorded |
| Hypoplastic pelvis | Not recorded |
| Limitation of joint mobility | Not recorded |
| Muscle weakness | Not recorded |
| Square pelvis bone | Not recorded |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Freckling | Always |
| Photosensitive skin | Always |
| Decreased ability to sweat | Often (30–79%) |
| Premature aged appearance | Often (30–79%) |
| Dry hair | Sometimes (5–29%) |
| Hyperpigmented skin patches | Sometimes (5–29%) |
| Premature graying of hair | Sometimes (5–29%) |
| Abnormal skin pigmentation | Not recorded |
| Atypical scarring of skin | Not recorded |
| Dry skin | Not recorded |
| Lack of sweating | Not recorded |
| Prematurely aged appearance | Not recorded |
| Reduced fat tissue below the skin | Not recorded |
| Sparse hair | Not recorded |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| High blood pressure | Often (30–79%) |
| Persistent left superior vena cava | Often (30–79%) |
| Premature coronary artery disease | Often (30–79%) |
| Vascular calcification | Often (30–79%) |
| Increased blood pressure | Sometimes (5–29%) |
| Bulge in wall of root of large artery that carries blood away from heart | Rarely (1–4%) |
| Disease of the heart muscle | Rarely (1–4%) |
| Increased spleen size | Rarely (1–4%) |
| Stroke | Rarely (1–4%) |
| Abnormal heart rate | Not recorded |
| Thymic hormone decreased | Not recorded |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Undescended testes | Always |
| Lack of bladder control due to nervous system injury | Often (30–79%) |
| Hydronephrosis | Sometimes (5–29%) |
| Hydroureter | Sometimes (5–29%) |
| Renal failure | Sometimes (5–29%) |
| Urinary retention | Sometimes (5–29%) |
| Absent kidney on one side | Rarely (1–4%) |
| Small kidneys | Rarely (1–4%) |
| Menstrual irregularity | Not recorded |
| Short penis | Not recorded |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Faltering weight | Always |
| Growth delay as children | Always |
| Severe short stature | Always |
| Short stature | Always |
| Prenatal growth deficiency | Very often (80–99%) |
| Mild growth deficiency | Sometimes (5–29%) |
| Severe growth delay in children | Not recorded |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Sensorineural hearing impairment | Always |
| Hearing impairment | Very often (80–99%) |
| Adult onset sensorineural hearing impairment | Often (30–79%) |
| Conductive deafness | Sometimes (5–29%) |
| Large ears | Sometimes (5–29%) |
| Abnormally shaped ears | Not recorded |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Diarrhea | Often (30–79%) |
| Acid reflux | Sometimes (5–29%) |
| Enlarged liver | Sometimes (5–29%) |
| Feeding difficulties | Sometimes (5–29%) |
| Feeding difficulties in infancy | Sometimes (5–29%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Contractures of the foot joints | Very often (80–99%) |
| Hip contracture | Often (30–79%) |
| Increased muscle tone of arm or leg | Sometimes (5–29%) |
| Increased bone density of end part of the hand bones | Not recorded |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| High liver enzymes | Very often (80–99%) |
| Abnormality of temperature regulation | Often (30–79%) |
| High urine protein levels | Often (30–79%) |
| Increased blood urea nitrogen | Often (30–79%) |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Low number of red blood cells or hemoglobin | Sometimes (5–29%) |
| Retinal bleeding | Rarely (1–4%) |
| Subdural hemorrhage | Rarely (1–4%) |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Decreased function of male gonad | Rarely (1–4%) |
| Decreased activity of gonads | Not recorded |
Abnormal cellular phenotype
| Trait | How often it is seen |
|---|---|
| Increased cellular sensitivity to UV light | Not recorded |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to ERCC8 and how often each is seen. Find out more at hpo.jax.org.
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