Traits

Traits linked to ERCC2

ERCC excision repair 2, TFIIH core complex helicase subunit

The Human Phenotype Ontology links 201 trait to ERCC2: a feature seen in people with one of the gene's rare conditions.

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Flattened and twisted hair	Visada
Photosensitive skin	Visada
Sparse hair	Visada
Trichorrhexis nodosa	Visada
Trichoschisis	Visada
Dry skin	Labai dažnai (80–99%)
Freckling	Labai dažnai (80–99%)
Numerous pigmented freckles	Labai dažnai (80–99%)
Poikiloderma	Labai dažnai (80–99%)
Prematurely aged appearance	Labai dažnai (80–99%)
Skin degeneration	Labai dažnai (80–99%)
Thickened skin	Labai dažnai (80–99%)
Thin skin	Labai dažnai (80–99%)
Basal cell carcinoma	Dažnai (30–79%)
Flat, discolored area of skin	Dažnai (30–79%)
Hyperkeratosis	Dažnai (30–79%)
Hyperpigmented skin patches	Dažnai (30–79%)
Papilloma	Dažnai (30–79%)
Patchy loss of skin color	Dažnai (30–79%)
Squamous cell carcinoma of the skin	Dažnai (30–79%)
Absent/small nails	Kartais (5–29%)
Beauty mark	Kartais (5–29%)
Brittle hair	Kartais (5–29%)
Brittle nails	Kartais (5–29%)
Grooved nails	Kartais (5–29%)
Hair loss	Kartais (5–29%)
Ichthyosis	Kartais (5–29%)
Longitudinal splitting of nail	Kartais (5–29%)
Poor fingernail formation	Kartais (5–29%)
Pterygium	Kartais (5–29%)
Spoon-shaped nails	Kartais (5–29%)
Squamous cell carcinoma	Kartais (5–29%)
Tiger tail banding	Kartais (5–29%)
Congenital nonbullous ichthyosiform erythroderma	Neužfiksuota
Fine hair	Neužfiksuota
Poor nail formation	Neužfiksuota
Small nail	Neužfiksuota

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Global developmental delay	Visada
Absent/small cerebellum	Labai dažnai (80–99%)
Ataxia	Labai dažnai (80–99%)
Cognitive impairment	Labai dažnai (80–99%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Labai dažnai (80–99%)
EEG abnormality	Labai dažnai (80–99%)
Intellectual disability	Labai dažnai (80–99%)
Loss of developmental milestones	Labai dažnai (80–99%)
Severe global developmental delay	Labai dažnai (80–99%)
Too much cerebrospinal fluid in the brain	Labai dažnai (80–99%)
Confusion	Dažnai (30–79%)
Demyelinating peripheral neuropathy	Dažnai (30–79%)
Difficulty articulating speech	Dažnai (30–79%)
Diminished deep tendon reflex	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Abnormal pyramidal sign	Kartais (5–29%)
Abnormality of extrapyramidal motor function	Kartais (5–29%)
Cerebral dysmyelination	Kartais (5–29%)
Decreased reflex response	Kartais (5–29%)
Diffuse cerebellar atrophy	Kartais (5–29%)
Generalized hyperreflexia	Kartais (5–29%)
Generalized-onset seizure	Kartais (5–29%)
Inability to coordinate movements when walking	Kartais (5–29%)
Intention tremor	Kartais (5–29%)
Paraplegia/paraparesis	Kartais (5–29%)
Partial agenesis of the corpus callosum	Kartais (5–29%)
Peripheral neuropathy	Kartais (5–29%)
Periventricular leukomalacia	Kartais (5–29%)
Poor social interactions	Kartais (5–29%)
Ventriculomegaly	Kartais (5–29%)
Choreoathetosis	Neužfiksuota
Delayed speech and language development	Neužfiksuota
Mental deterioration	Neužfiksuota

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Abnormally small head	Visada
Beaked nose	Visada
Little lower jaw	Visada
Prominent nose	Visada
Receding chin	Visada
Abnormal dentition	Labai dažnai (80–99%)
Abnormal of nasal shape	Labai dažnai (80–99%)
Drooping lower lip	Labai dažnai (80–99%)
Prominent metopic ridge	Labai dažnai (80–99%)
Small dilated blood vessels near membrane covering front of eye and eyelids	Labai dažnai (80–99%)
Wide nasal bridge	Labai dažnai (80–99%)
Short neck	Dažnai (30–79%)
Absence of scalp hair	Kartais (5–29%)
Adhesion of eyelids	Kartais (5–29%)
Bird-like facial appearance	Kartais (5–29%)
Coarse facial features	Kartais (5–29%)
Deformity of the skull	Kartais (5–29%)
Dental cavities	Kartais (5–29%)
Dry eye syndrome	Kartais (5–29%)
Enlargement of craniofacial bones	Kartais (5–29%)
Everted eyelid	Kartais (5–29%)
Eye folds	Kartais (5–29%)
Eyelid folded in	Kartais (5–29%)
Flat nasal alae	Kartais (5–29%)
High, narrow palate	Kartais (5–29%)
Hypoplasia of mandible relative to maxilla	Kartais (5–29%)
Inflammation of eyelids	Kartais (5–29%)
Pink eye	Kartais (5–29%)
Sparse scalp hair	Kartais (5–29%)
Thin dental enamel	Kartais (5–29%)
Short nose	Neužfiksuota
Triangular mouth	Neužfiksuota

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Abnormally small eyeball	Visada
Clouding of the lens of the eye	Visada
Clouding of the lens of the eye at birth	Visada
Deeply set eye	Visada
Involuntary, rapid, rhythmic eye movements	Labai dažnai (80–99%)
Noninflammatory retina disease	Labai dažnai (80–99%)
Optic atrophy	Labai dažnai (80–99%)
Corneal inflammation	Dažnai (30–79%)
Cross-eyed	Dažnai (30–79%)
Double vision	Dažnai (30–79%)
Visual impairment	Dažnai (30–79%)
Abnormal retinal pigmentation	Kartais (5–29%)
Abnormally close eyes	Kartais (5–29%)
Abnormally small eyeball on both sides	Kartais (5–29%)
Astigmatism	Kartais (5–29%)
Close sighted	Kartais (5–29%)
Cornea of eye less than 10mm in diameter	Kartais (5–29%)
Extreme sensitivity of the eyes to light	Kartais (5–29%)
Eye tumor	Kartais (5–29%)
Inward turning cross eyed	Kartais (5–29%)
Macular degeneration	Kartais (5–29%)
New blood vessel formation in cornea	Kartais (5–29%)
Opacification of the corneal stroma	Kartais (5–29%)
Retina degeneration	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Kyphoscoliosis	Visada
Abnormal deposits of calcium in the brain	Labai dažnai (80–99%)
Arthrogryposis multiplex congenita	Labai dažnai (80–99%)
Involuntary muscle stiffness, contraction, or spasm	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%)
Absent fat below the skin	Kartais (5–29%)
Delayed bone maturation	Kartais (5–29%)
Generalized decreased muscle tone	Kartais (5–29%)
Increased bone mineral density	Kartais (5–29%)
Joint dislocation	Kartais (5–29%)
Multiple joint contractures	Kartais (5–29%)
Osteopenia	Kartais (5–29%)
Thoracic kyphosis	Kartais (5–29%)
Flexed joint that cannot be straightened	Neužfiksuota

Abnormality of the immune system

Trait	Kaip dažnai pasireiškia
Skin rash	Labai dažnai (80–99%)
Abnormality of immune system physiology	Dažnai (30–79%)
Congenital exfoliative erythroderma	Kartais (5–29%)
Eczema	Kartais (5–29%)
Recurrent infections	Kartais (5–29%)
Recurrent infections in bronchi and lungs	Kartais (5–29%)
Asthma	Neužfiksuota
Red scaly skin caused by inflammatory skin disease	Neužfiksuota

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Hardened artery wall	Labai dažnai (80–99%)
Hives	Labai dažnai (80–99%)
Spider veins	Labai dažnai (80–99%)
Telangiectasia of the skin	Labai dažnai (80–99%)
Redness of skin or mucous membrane	Dažnai (30–79%)
Disease of the heart muscle	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Growth delay	Visada
Prenatal growth deficiency	Visada
Small for gestational age	Visada
Faltering weight	Labai dažnai (80–99%)
Short stature	Labai dažnai (80–99%)
Wasting syndrome	Labai dažnai (80–99%)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Feeding difficulties in infancy	Labai dažnai (80–99%)
Umbilical hernia	Kartais (5–29%)
Chronic diarrhea	Neužfiksuota
Intestinal obstruction	Neužfiksuota
Malabsorption	Neužfiksuota

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Hearing impairment	Visada
Sensorineural hearing impairment	Dažnai (30–79%)
Bilateral sensorineural hearing impairment	Kartais (5–29%)
Prominent ear	Kartais (5–29%)
Large ears	Neužfiksuota

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Short penis	Visada
Smaller than typical growth of scrotum	Visada
Undescended testes	Dažnai (30–79%)
Decreased testicular size	Kartais (5–29%)
Gonadal dysgenesis	Kartais (5–29%)

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Permanent flexion of the finger	Visada
Rocker bottom foot	Visada
Clubbing of fingers and toes	Kartais (5–29%)
Talipes	Kartais (5–29%)

Abnormal cellular phenotype

Trait	Kaip dažnai pasireiškia
Defective DNA repair after ultraviolet radiation damage	Kartais (5–29%)
Panhypogammaglobulinemia	Kartais (5–29%)
Decreased circulating IgG concentration	Neužfiksuota

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Increased mean corpuscular hemoglobin concentration	Kartais (5–29%)
Low blood neutrophil count	Kartais (5–29%)
Low number of red blood cells or hemoglobin	Kartais (5–29%)

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Abnormality of amino acid metabolism	Labai dažnai (80–99%)
Fever	Labai dažnai (80–99%)
Abnormal urinary amino-acid findings	Kartais (5–29%)

Abnormal tissue mass

Trait	Kaip dažnai pasireiškia
Cancer of skin pigment cells	Dažnai (30–79%)
Abnormal tissue mass	Kartais (5–29%)

Constitutional symptom

Trait	Kaip dažnai pasireiškia
Fatigue	Labai dažnai (80–99%)
Joint pain	Labai dažnai (80–99%)

Abnormality of prenatal development or birth

Trait	Kaip dažnai pasireiškia
Abnormality of prenatal development or birth	Kartais (5–29%)

Abnormality of the breast

Trait	Kaip dažnai pasireiškia
Low-set nipples	Kartais (5–29%)

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Decreased activity of gonads	Labai dažnai (80–99%)

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Bronchoconstriction	Kartais (5–29%)

Abnormality of the voice

Trait	Kaip dažnai pasireiškia
Inability to produce voice sounds	Kartais (5–29%)

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

The Human Phenotype Ontology, release 2026-09-01: the traits linked to ERCC2 and how often each is seen. Find out more at hpo.jax.org.

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