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

Abnormality of the nervous system

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

Abnormality of head or neck

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

Abnormality of the eye

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

Abnormality of the musculoskeletal system

Trait	나타나는 빈도
Kyphoscoliosis	항상
Abnormal deposits of calcium in the brain	매우 자주 (80–99%)
Arthrogryposis multiplex congenita	매우 자주 (80–99%)
Involuntary muscle stiffness, contraction, or spasm	매우 자주 (80–99%)
Joint stiffness	매우 자주 (80–99%)
Low muscle tone	매우 자주 (80–99%)
Spasticity and rigidity of muscles	매우 자주 (80–99%)
Absent fat below the skin	가끔 (5–29%)
Delayed bone maturation	가끔 (5–29%)
Generalized decreased muscle tone	가끔 (5–29%)
Increased bone mineral density	가끔 (5–29%)
Joint dislocation	가끔 (5–29%)
Multiple joint contractures	가끔 (5–29%)
Osteopenia	가끔 (5–29%)
Thoracic kyphosis	가끔 (5–29%)
Flexed joint that cannot be straightened	기록되지 않음

Abnormality of the immune system

Trait	나타나는 빈도
Skin rash	매우 자주 (80–99%)
Abnormality of immune system physiology	자주 (30–79%)
Congenital exfoliative erythroderma	가끔 (5–29%)
Eczema	가끔 (5–29%)
Recurrent infections	가끔 (5–29%)
Recurrent infections in bronchi and lungs	가끔 (5–29%)
Asthma	기록되지 않음
Red scaly skin caused by inflammatory skin disease	기록되지 않음

Abnormality of the cardiovascular system

Trait	나타나는 빈도
Hardened artery wall	매우 자주 (80–99%)
Hives	매우 자주 (80–99%)
Spider veins	매우 자주 (80–99%)
Telangiectasia of the skin	매우 자주 (80–99%)
Redness of skin or mucous membrane	자주 (30–79%)
Disease of the heart muscle	가끔 (5–29%)
Hole in heart wall separating two lower heart chambers	가끔 (5–29%)

Growth abnormality

Trait	나타나는 빈도
Growth delay	항상
Prenatal growth deficiency	항상
Small for gestational age	항상
Faltering weight	매우 자주 (80–99%)
Short stature	매우 자주 (80–99%)
Wasting syndrome	매우 자주 (80–99%)

Abnormality of the digestive system

Trait	나타나는 빈도
Feeding difficulties in infancy	매우 자주 (80–99%)
Umbilical hernia	가끔 (5–29%)
Chronic diarrhea	기록되지 않음
Intestinal obstruction	기록되지 않음
Malabsorption	기록되지 않음

Abnormality of the ear

Trait	나타나는 빈도
Hearing impairment	항상
Sensorineural hearing impairment	자주 (30–79%)
Bilateral sensorineural hearing impairment	가끔 (5–29%)
Prominent ear	가끔 (5–29%)
Large ears	기록되지 않음

Abnormality of the genitourinary system

Trait	나타나는 빈도
Short penis	항상
Smaller than typical growth of scrotum	항상
Undescended testes	자주 (30–79%)
Decreased testicular size	가끔 (5–29%)
Gonadal dysgenesis	가끔 (5–29%)

Abnormality of limbs

Trait	나타나는 빈도
Permanent flexion of the finger	항상
Rocker bottom foot	항상
Clubbing of fingers and toes	가끔 (5–29%)
Talipes	가끔 (5–29%)

Abnormal cellular phenotype

Trait	나타나는 빈도
Defective DNA repair after ultraviolet radiation damage	가끔 (5–29%)
Panhypogammaglobulinemia	가끔 (5–29%)
Decreased circulating IgG concentration	기록되지 않음

Abnormality of blood and blood-forming tissues

Trait	나타나는 빈도
Increased mean corpuscular hemoglobin concentration	가끔 (5–29%)
Low blood neutrophil count	가끔 (5–29%)
Low number of red blood cells or hemoglobin	가끔 (5–29%)

Laboratory abnormality

Trait	나타나는 빈도
Abnormality of amino acid metabolism	매우 자주 (80–99%)
Fever	매우 자주 (80–99%)
Abnormal urinary amino-acid findings	가끔 (5–29%)

Abnormal tissue mass

Trait	나타나는 빈도
Cancer of skin pigment cells	자주 (30–79%)
Abnormal tissue mass	가끔 (5–29%)

Constitutional symptom

Trait	나타나는 빈도
Fatigue	매우 자주 (80–99%)
Joint pain	매우 자주 (80–99%)

Abnormality of prenatal development or birth

Trait	나타나는 빈도
Abnormality of prenatal development or birth	가끔 (5–29%)

Abnormality of the breast

Trait	나타나는 빈도
Low-set nipples	가끔 (5–29%)

Abnormality of the endocrine system

Trait	나타나는 빈도
Decreased activity of gonads	매우 자주 (80–99%)

Abnormality of the respiratory system

Trait	나타나는 빈도
Bronchoconstriction	가끔 (5–29%)

Abnormality of the voice

Trait	나타나는 빈도
Inability to produce voice sounds	가끔 (5–29%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

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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