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

Abnormality of the nervous system

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

Abnormality of head or neck

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

Abnormality of the eye

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

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Kyphoscoliosis	Alati
Abnormal deposits of calcium in the brain	Väga sageli (80–99%)
Arthrogryposis multiplex congenita	Väga sageli (80–99%)
Involuntary muscle stiffness, contraction, or spasm	Väga sageli (80–99%)
Joint stiffness	Väga sageli (80–99%)
Low muscle tone	Väga sageli (80–99%)
Spasticity and rigidity of muscles	Väga sageli (80–99%)
Absent fat below the skin	Mõnikord (5–29%)
Delayed bone maturation	Mõnikord (5–29%)
Generalized decreased muscle tone	Mõnikord (5–29%)
Increased bone mineral density	Mõnikord (5–29%)
Joint dislocation	Mõnikord (5–29%)
Multiple joint contractures	Mõnikord (5–29%)
Osteopenia	Mõnikord (5–29%)
Thoracic kyphosis	Mõnikord (5–29%)
Flexed joint that cannot be straightened	Pole registreeritud

Abnormality of the immune system

Trait	Kui sageli seda täheldatakse
Skin rash	Väga sageli (80–99%)
Abnormality of immune system physiology	Sageli (30–79%)
Congenital exfoliative erythroderma	Mõnikord (5–29%)
Eczema	Mõnikord (5–29%)
Recurrent infections	Mõnikord (5–29%)
Recurrent infections in bronchi and lungs	Mõnikord (5–29%)
Asthma	Pole registreeritud
Red scaly skin caused by inflammatory skin disease	Pole registreeritud

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
Hardened artery wall	Väga sageli (80–99%)
Hives	Väga sageli (80–99%)
Spider veins	Väga sageli (80–99%)
Telangiectasia of the skin	Väga sageli (80–99%)
Redness of skin or mucous membrane	Sageli (30–79%)
Disease of the heart muscle	Mõnikord (5–29%)
Hole in heart wall separating two lower heart chambers	Mõnikord (5–29%)

Growth abnormality

Trait	Kui sageli seda täheldatakse
Growth delay	Alati
Prenatal growth deficiency	Alati
Small for gestational age	Alati
Faltering weight	Väga sageli (80–99%)
Short stature	Väga sageli (80–99%)
Wasting syndrome	Väga sageli (80–99%)

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Feeding difficulties in infancy	Väga sageli (80–99%)
Umbilical hernia	Mõnikord (5–29%)
Chronic diarrhea	Pole registreeritud
Intestinal obstruction	Pole registreeritud
Malabsorption	Pole registreeritud

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Hearing impairment	Alati
Sensorineural hearing impairment	Sageli (30–79%)
Bilateral sensorineural hearing impairment	Mõnikord (5–29%)
Prominent ear	Mõnikord (5–29%)
Large ears	Pole registreeritud

Abnormality of the genitourinary system

Trait	Kui sageli seda täheldatakse
Short penis	Alati
Smaller than typical growth of scrotum	Alati
Undescended testes	Sageli (30–79%)
Decreased testicular size	Mõnikord (5–29%)
Gonadal dysgenesis	Mõnikord (5–29%)

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Permanent flexion of the finger	Alati
Rocker bottom foot	Alati
Clubbing of fingers and toes	Mõnikord (5–29%)
Talipes	Mõnikord (5–29%)

Abnormal cellular phenotype

Trait	Kui sageli seda täheldatakse
Defective DNA repair after ultraviolet radiation damage	Mõnikord (5–29%)
Panhypogammaglobulinemia	Mõnikord (5–29%)
Decreased circulating IgG concentration	Pole registreeritud

Abnormality of blood and blood-forming tissues

Trait	Kui sageli seda täheldatakse
Increased mean corpuscular hemoglobin concentration	Mõnikord (5–29%)
Low blood neutrophil count	Mõnikord (5–29%)
Low number of red blood cells or hemoglobin	Mõnikord (5–29%)

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
Abnormality of amino acid metabolism	Väga sageli (80–99%)
Fever	Väga sageli (80–99%)
Abnormal urinary amino-acid findings	Mõnikord (5–29%)

Abnormal tissue mass

Trait	Kui sageli seda täheldatakse
Cancer of skin pigment cells	Sageli (30–79%)
Abnormal tissue mass	Mõnikord (5–29%)

Constitutional symptom

Trait	Kui sageli seda täheldatakse
Fatigue	Väga sageli (80–99%)
Joint pain	Väga sageli (80–99%)

Abnormality of prenatal development or birth

Trait	Kui sageli seda täheldatakse
Abnormality of prenatal development or birth	Mõnikord (5–29%)

Abnormality of the breast

Trait	Kui sageli seda täheldatakse
Low-set nipples	Mõnikord (5–29%)

Abnormality of the endocrine system

Trait	Kui sageli seda täheldatakse
Decreased activity of gonads	Väga sageli (80–99%)

Abnormality of the respiratory system

Trait	Kui sageli seda täheldatakse
Bronchoconstriction	Mõnikord (5–29%)

Abnormality of the voice

Trait	Kui sageli seda täheldatakse
Inability to produce voice sounds	Mõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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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