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

Abnormality of the nervous system

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

Abnormality of head or neck

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

Abnormality of the eye

Trait	Hur ofta den förekommer
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	Mycket ofta (80–99 %)
Noninflammatory retina disease	Mycket ofta (80–99 %)
Optic atrophy	Mycket ofta (80–99 %)
Corneal inflammation	Ofta (30–79 %)
Cross-eyed	Ofta (30–79 %)
Double vision	Ofta (30–79 %)
Visual impairment	Ofta (30–79 %)
Abnormal retinal pigmentation	Ibland (5–29 %)
Abnormally close eyes	Ibland (5–29 %)
Abnormally small eyeball on both sides	Ibland (5–29 %)
Astigmatism	Ibland (5–29 %)
Close sighted	Ibland (5–29 %)
Cornea of eye less than 10mm in diameter	Ibland (5–29 %)
Extreme sensitivity of the eyes to light	Ibland (5–29 %)
Eye tumor	Ibland (5–29 %)
Inward turning cross eyed	Ibland (5–29 %)
Macular degeneration	Ibland (5–29 %)
New blood vessel formation in cornea	Ibland (5–29 %)
Opacification of the corneal stroma	Ibland (5–29 %)
Retina degeneration	Ibland (5–29 %)
Wide-set eyes	Ibland (5–29 %)

Abnormality of the musculoskeletal system

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

Abnormality of the immune system

Trait	Hur ofta den förekommer
Skin rash	Mycket ofta (80–99 %)
Abnormality of immune system physiology	Ofta (30–79 %)
Congenital exfoliative erythroderma	Ibland (5–29 %)
Eczema	Ibland (5–29 %)
Recurrent infections	Ibland (5–29 %)
Recurrent infections in bronchi and lungs	Ibland (5–29 %)
Asthma	Inte registrerat
Red scaly skin caused by inflammatory skin disease	Inte registrerat

Abnormality of the cardiovascular system

Trait	Hur ofta den förekommer
Hardened artery wall	Mycket ofta (80–99 %)
Hives	Mycket ofta (80–99 %)
Spider veins	Mycket ofta (80–99 %)
Telangiectasia of the skin	Mycket ofta (80–99 %)
Redness of skin or mucous membrane	Ofta (30–79 %)
Disease of the heart muscle	Ibland (5–29 %)
Hole in heart wall separating two lower heart chambers	Ibland (5–29 %)

Growth abnormality

Trait	Hur ofta den förekommer
Growth delay	Alltid
Prenatal growth deficiency	Alltid
Small for gestational age	Alltid
Faltering weight	Mycket ofta (80–99 %)
Short stature	Mycket ofta (80–99 %)
Wasting syndrome	Mycket ofta (80–99 %)

Abnormality of the digestive system

Trait	Hur ofta den förekommer
Feeding difficulties in infancy	Mycket ofta (80–99 %)
Umbilical hernia	Ibland (5–29 %)
Chronic diarrhea	Inte registrerat
Intestinal obstruction	Inte registrerat
Malabsorption	Inte registrerat

Abnormality of the ear

Trait	Hur ofta den förekommer
Hearing impairment	Alltid
Sensorineural hearing impairment	Ofta (30–79 %)
Bilateral sensorineural hearing impairment	Ibland (5–29 %)
Prominent ear	Ibland (5–29 %)
Large ears	Inte registrerat

Abnormality of the genitourinary system

Trait	Hur ofta den förekommer
Short penis	Alltid
Smaller than typical growth of scrotum	Alltid
Undescended testes	Ofta (30–79 %)
Decreased testicular size	Ibland (5–29 %)
Gonadal dysgenesis	Ibland (5–29 %)

Abnormality of limbs

Trait	Hur ofta den förekommer
Permanent flexion of the finger	Alltid
Rocker bottom foot	Alltid
Clubbing of fingers and toes	Ibland (5–29 %)
Talipes	Ibland (5–29 %)

Abnormal cellular phenotype

Trait	Hur ofta den förekommer
Defective DNA repair after ultraviolet radiation damage	Ibland (5–29 %)
Panhypogammaglobulinemia	Ibland (5–29 %)
Decreased circulating IgG concentration	Inte registrerat

Abnormality of blood and blood-forming tissues

Trait	Hur ofta den förekommer
Increased mean corpuscular hemoglobin concentration	Ibland (5–29 %)
Low blood neutrophil count	Ibland (5–29 %)
Low number of red blood cells or hemoglobin	Ibland (5–29 %)

Laboratory abnormality

Trait	Hur ofta den förekommer
Abnormality of amino acid metabolism	Mycket ofta (80–99 %)
Fever	Mycket ofta (80–99 %)
Abnormal urinary amino-acid findings	Ibland (5–29 %)

Abnormal tissue mass

Trait	Hur ofta den förekommer
Cancer of skin pigment cells	Ofta (30–79 %)
Abnormal tissue mass	Ibland (5–29 %)

Constitutional symptom

Trait	Hur ofta den förekommer
Fatigue	Mycket ofta (80–99 %)
Joint pain	Mycket ofta (80–99 %)

Abnormality of prenatal development or birth

Trait	Hur ofta den förekommer
Abnormality of prenatal development or birth	Ibland (5–29 %)

Abnormality of the breast

Trait	Hur ofta den förekommer
Low-set nipples	Ibland (5–29 %)

Abnormality of the endocrine system

Trait	Hur ofta den förekommer
Decreased activity of gonads	Mycket ofta (80–99 %)

Abnormality of the respiratory system

Trait	Hur ofta den förekommer
Bronchoconstriction	Ibland (5–29 %)

Abnormality of the voice

Trait	Hur ofta den förekommer
Inability to produce voice sounds	Ibland (5–29 %)

Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.

Varifrån informationen kommer

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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