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

Abnormality of the nervous system

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

Abnormality of head or neck

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

Abnormality of the eye

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

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Kyphoscoliosis	Întotdeauna
Abnormal deposits of calcium in the brain	Foarte des (80–99%)
Arthrogryposis multiplex congenita	Foarte des (80–99%)
Involuntary muscle stiffness, contraction, or spasm	Foarte des (80–99%)
Joint stiffness	Foarte des (80–99%)
Low muscle tone	Foarte des (80–99%)
Spasticity and rigidity of muscles	Foarte des (80–99%)
Absent fat below the skin	Uneori (5–29%)
Delayed bone maturation	Uneori (5–29%)
Generalized decreased muscle tone	Uneori (5–29%)
Increased bone mineral density	Uneori (5–29%)
Joint dislocation	Uneori (5–29%)
Multiple joint contractures	Uneori (5–29%)
Osteopenia	Uneori (5–29%)
Thoracic kyphosis	Uneori (5–29%)
Flexed joint that cannot be straightened	Neînregistrat

Abnormality of the immune system

Trait	Cât de frecvent apare
Skin rash	Foarte des (80–99%)
Abnormality of immune system physiology	Des (30–79%)
Congenital exfoliative erythroderma	Uneori (5–29%)
Eczema	Uneori (5–29%)
Recurrent infections	Uneori (5–29%)
Recurrent infections in bronchi and lungs	Uneori (5–29%)
Asthma	Neînregistrat
Red scaly skin caused by inflammatory skin disease	Neînregistrat

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Hardened artery wall	Foarte des (80–99%)
Hives	Foarte des (80–99%)
Spider veins	Foarte des (80–99%)
Telangiectasia of the skin	Foarte des (80–99%)
Redness of skin or mucous membrane	Des (30–79%)
Disease of the heart muscle	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)

Growth abnormality

Trait	Cât de frecvent apare
Growth delay	Întotdeauna
Prenatal growth deficiency	Întotdeauna
Small for gestational age	Întotdeauna
Faltering weight	Foarte des (80–99%)
Short stature	Foarte des (80–99%)
Wasting syndrome	Foarte des (80–99%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Feeding difficulties in infancy	Foarte des (80–99%)
Umbilical hernia	Uneori (5–29%)
Chronic diarrhea	Neînregistrat
Intestinal obstruction	Neînregistrat
Malabsorption	Neînregistrat

Abnormality of the ear

Trait	Cât de frecvent apare
Hearing impairment	Întotdeauna
Sensorineural hearing impairment	Des (30–79%)
Bilateral sensorineural hearing impairment	Uneori (5–29%)
Prominent ear	Uneori (5–29%)
Large ears	Neînregistrat

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Short penis	Întotdeauna
Smaller than typical growth of scrotum	Întotdeauna
Undescended testes	Des (30–79%)
Decreased testicular size	Uneori (5–29%)
Gonadal dysgenesis	Uneori (5–29%)

Abnormality of limbs

Trait	Cât de frecvent apare
Permanent flexion of the finger	Întotdeauna
Rocker bottom foot	Întotdeauna
Clubbing of fingers and toes	Uneori (5–29%)
Talipes	Uneori (5–29%)

Abnormal cellular phenotype

Trait	Cât de frecvent apare
Defective DNA repair after ultraviolet radiation damage	Uneori (5–29%)
Panhypogammaglobulinemia	Uneori (5–29%)
Decreased circulating IgG concentration	Neînregistrat

Abnormality of blood and blood-forming tissues

Trait	Cât de frecvent apare
Increased mean corpuscular hemoglobin concentration	Uneori (5–29%)
Low blood neutrophil count	Uneori (5–29%)
Low number of red blood cells or hemoglobin	Uneori (5–29%)

Laboratory abnormality

Trait	Cât de frecvent apare
Abnormality of amino acid metabolism	Foarte des (80–99%)
Fever	Foarte des (80–99%)
Abnormal urinary amino-acid findings	Uneori (5–29%)

Abnormal tissue mass

Trait	Cât de frecvent apare
Cancer of skin pigment cells	Des (30–79%)
Abnormal tissue mass	Uneori (5–29%)

Constitutional symptom

Trait	Cât de frecvent apare
Fatigue	Foarte des (80–99%)
Joint pain	Foarte des (80–99%)

Abnormality of prenatal development or birth

Trait	Cât de frecvent apare
Abnormality of prenatal development or birth	Uneori (5–29%)

Abnormality of the breast

Trait	Cât de frecvent apare
Low-set nipples	Uneori (5–29%)

Abnormality of the endocrine system

Trait	Cât de frecvent apare
Decreased activity of gonads	Foarte des (80–99%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Bronchoconstriction	Uneori (5–29%)

Abnormality of the voice

Trait	Cât de frecvent apare
Inability to produce voice sounds	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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.

Un test. Răspunsuri pentru o viață.

De la 449 $Livrare gratuită · Rezultate în 6–8 săptămâni

Comandați Genome Test-ul meu