Traits

Traits linked to ERCC2

ERCC excision repair 2, TFIIH core complex helicase subunit

The Human Phenotype Ontology links 201 traits to ERCC2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the integument

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

Abnormality of the nervous system

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

Abnormality of head or neck

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

Abnormality of the eye

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

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Kyphoscoliosis	Alltid
Abnormal deposits of calcium in the brain	Svært ofte (80–99 %)
Arthrogryposis multiplex congenita	Svært ofte (80–99 %)
Involuntary muscle stiffness, contraction, or spasm	Svært ofte (80–99 %)
Joint stiffness	Svært ofte (80–99 %)
Low muscle tone	Svært ofte (80–99 %)
Spasticity and rigidity of muscles	Svært ofte (80–99 %)
Absent fat below the skin	Noen ganger (5–29 %)
Delayed bone maturation	Noen ganger (5–29 %)
Generalized decreased muscle tone	Noen ganger (5–29 %)
Increased bone mineral density	Noen ganger (5–29 %)
Joint dislocation	Noen ganger (5–29 %)
Multiple joint contractures	Noen ganger (5–29 %)
Osteopenia	Noen ganger (5–29 %)
Thoracic kyphosis	Noen ganger (5–29 %)
Flexed joint that cannot be straightened	Ikke registrert

Abnormality of the immune system

Trait	Hvor ofte den forekommer
Skin rash	Svært ofte (80–99 %)
Abnormality of immune system physiology	Ofte (30–79 %)
Congenital exfoliative erythroderma	Noen ganger (5–29 %)
Eczema	Noen ganger (5–29 %)
Recurrent infections	Noen ganger (5–29 %)
Recurrent infections in bronchi and lungs	Noen ganger (5–29 %)
Asthma	Ikke registrert
Red scaly skin caused by inflammatory skin disease	Ikke registrert

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Hardened artery wall	Svært ofte (80–99 %)
Hives	Svært ofte (80–99 %)
Spider veins	Svært ofte (80–99 %)
Telangiectasia of the skin	Svært ofte (80–99 %)
Redness of skin or mucous membrane	Ofte (30–79 %)
Disease of the heart muscle	Noen ganger (5–29 %)
Hole in heart wall separating two lower heart chambers	Noen ganger (5–29 %)

Growth abnormality

Trait	Hvor ofte den forekommer
Growth delay	Alltid
Prenatal growth deficiency	Alltid
Small for gestational age	Alltid
Faltering weight	Svært ofte (80–99 %)
Short stature	Svært ofte (80–99 %)
Wasting syndrome	Svært ofte (80–99 %)

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Feeding difficulties in infancy	Svært ofte (80–99 %)
Umbilical hernia	Noen ganger (5–29 %)
Chronic diarrhea	Ikke registrert
Intestinal obstruction	Ikke registrert
Malabsorption	Ikke registrert

Abnormality of the ear

Trait	Hvor ofte den forekommer
Hearing impairment	Alltid
Sensorineural hearing impairment	Ofte (30–79 %)
Bilateral sensorineural hearing impairment	Noen ganger (5–29 %)
Prominent ear	Noen ganger (5–29 %)
Large ears	Ikke registrert

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Short penis	Alltid
Smaller than typical growth of scrotum	Alltid
Undescended testes	Ofte (30–79 %)
Decreased testicular size	Noen ganger (5–29 %)
Gonadal dysgenesis	Noen ganger (5–29 %)

Abnormality of limbs

Trait	Hvor ofte den forekommer
Permanent flexion of the finger	Alltid
Rocker bottom foot	Alltid
Clubbing of fingers and toes	Noen ganger (5–29 %)
Talipes	Noen ganger (5–29 %)

Abnormal cellular phenotype

Trait	Hvor ofte den forekommer
Defective DNA repair after ultraviolet radiation damage	Noen ganger (5–29 %)
Panhypogammaglobulinemia	Noen ganger (5–29 %)
Decreased circulating IgG concentration	Ikke registrert

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
Increased mean corpuscular hemoglobin concentration	Noen ganger (5–29 %)
Low blood neutrophil count	Noen ganger (5–29 %)
Low number of red blood cells or hemoglobin	Noen ganger (5–29 %)

Laboratory abnormality

Trait	Hvor ofte den forekommer
Abnormality of amino acid metabolism	Svært ofte (80–99 %)
Fever	Svært ofte (80–99 %)
Abnormal urinary amino-acid findings	Noen ganger (5–29 %)

Abnormal tissue mass

Trait	Hvor ofte den forekommer
Cancer of skin pigment cells	Ofte (30–79 %)
Abnormal tissue mass	Noen ganger (5–29 %)

Constitutional symptom

Trait	Hvor ofte den forekommer
Fatigue	Svært ofte (80–99 %)
Joint pain	Svært ofte (80–99 %)

Abnormality of prenatal development or birth

Trait	Hvor ofte den forekommer
Abnormality of prenatal development or birth	Noen ganger (5–29 %)

Abnormality of the breast

Trait	Hvor ofte den forekommer
Low-set nipples	Noen ganger (5–29 %)

Abnormality of the endocrine system

Trait	Hvor ofte den forekommer
Decreased activity of gonads	Svært ofte (80–99 %)

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Bronchoconstriction	Noen ganger (5–29 %)

Abnormality of the voice

Trait	Hvor ofte den forekommer
Inability to produce voice sounds	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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