Tunnused

Geeniga ERCC1 seotud tunnused

ERCC excision repair 1, endonuclease non-catalytic subunit

Inimese fenotüübi ontoloogia seostab geeniga ERCC1 98 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Abnormally small head	Alati
Little lower jaw	Alati
Narrow opening between the eyelids	Alati
Premature closure of fontanelles	Alati
Prominent nasal bridge	Alati
Short philtrum	Alati
Abnormal facial shape	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%)
Wide nasal bridge	Väga sageli (80–99%)
Big lower jaw	Sageli (30–79%)
Long face	Sageli (30–79%)
Short neck	Sageli (30–79%)
Decreased width of baby teeth	Mõnikord (5–29%)
Delayed eruption of baby teeth	Mõnikord (5–29%)
Failure of development of all teeth	Mõnikord (5–29%)
Pink eye	Mõnikord (5–29%)
Short chin	Mõnikord (5–29%)
Thin dental enamel	Mõnikord (5–29%)
Wide gaps between baby teeth	Mõnikord (5–29%)

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Brisk reflexes	Alati
EEG abnormality	Alati
Global developmental delay	Alati
Increased reflexes	Alati
More grooves in brain	Alati
Simplified gyral pattern	Alati
Small cerebellum	Alati
Absent/small cerebellum	Väga sageli (80–99%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Väga sageli (80–99%)
Intellectual disability	Väga sageli (80–99%)
Neurodevelopmental delay	Väga sageli (80–99%)
Patchy demyelination of subcortical white matter	Väga sageli (80–99%)
Severe global developmental delay	Väga sageli (80–99%)
Abnormal gait	Sageli (30–79%)
Ataxia	Sageli (30–79%)
Balance impairment	Sageli (30–79%)
Diminished deep tendon reflex	Sageli (30–79%)
Epilepsy	Sageli (30–79%)
Peripheral neuropathy	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Arthrogryposis multiplex congenita	Alati
Kyphoscoliosis	Alati
Slender long bone	Alati
Spasticity and rigidity of muscles	Alati
Abnormal deposits of calcium in the brain	Väga sageli (80–99%)
Joint stiffness	Väga sageli (80–99%)
Low muscle tone	Väga sageli (80–99%)
Subcortical white matter calcifications	Väga sageli (80–99%)
Flexed joint that cannot be straightened	Mõnikord (5–29%)
Hunched back	Mõnikord (5–29%)
Low muscle tone in trunk	Mõnikord (5–29%)
Lower limb spasticity	Mõnikord (5–29%)
Scarring	Mõnikord (5–29%)
Scoliosis	Mõnikord (5–29%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Dislocated radial head	Alati
Elbow flexion contracture	Alati
Flared wide portion of long bone	Alati
Hip dislocation	Alati
Inability to straighten knee	Alati
Inward turned thumb	Alati
Permanent flexion of the finger	Alati
Rocker bottom foot	Alati
Steep acetabular roof	Alati
Wrist flexion contracture	Alati
Increased muscle tone of arm or leg	Mõnikord (5–29%)
Talipes	Mõnikord (5–29%)
Flexion contracture of toe	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Abnormally small eyeball on both sides	Alati
Deeply set eye	Alati
Involuntary, rapid, rhythmic eye movements	Alati
Abnormally small eyeball	Väga sageli (80–99%)
Clouding of the lens of the eye	Väga sageli (80–99%)
Visual impairment	Sageli (30–79%)
Abnormal retinal pigmentation	Mõnikord (5–29%)
Absence of eyeballs	Mõnikord (5–29%)
Clouding of the lens of the eye at birth	Mõnikord (5–29%)
Cross-eyed	Mõnikord (5–29%)
Extreme sensitivity of the eyes to light	Mõnikord (5–29%)
Optic atrophy	Mõnikord (5–29%)
Uveitis	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Ears rotated toward back of head	Alati
Low-set ears	Alati
Sensorineural hearing impairment	Sageli (30–79%)
Hearing impairment	Mõnikord (5–29%)
Large ears	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight in infancy	Alati
Prenatal growth deficiency	Alati
Short stature	Väga sageli (80–99%)
Decreased body weight	Pole registreeritud

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Photosensitive skin	Sageli (30–79%)
Premature aged appearance	Sageli (30–79%)
Hyperpigmented skin patches	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Feeding difficulties in infancy	Väga sageli (80–99%)
Enlarged liver	Mõnikord (5–29%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Decreased activity of gonads	Sageli (30–79%)
Decreased function of male gonad	Harva (1–4%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Undescended testes	Harva (1–4%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Abnormality of immune system physiology	Sageli (30–79%)

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

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga ERCC1 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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