Tunnused

Geeniga GJB2 seotud tunnused

gap junction protein beta 2

Inimese fenotüübi ontoloogia seostab geeniga GJB2 101 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Absent axillary hair	Alati
Absent pubic hair	Alati
Cobblestone-like hyperkeratosis	Alati
Decreased ability to sweat	Alati
Hyperkeratosis	Alati
Ichthyosis	Alati
Squamous cell carcinoma	Alati
Knuckle pad	Väga sageli (80–99%)
White discoloration of nails	Väga sageli (80–99%)
Congenital ichthyosiform erythroderma	Sageli (30–79%)
Follicular hyperkeratosis	Sageli (30–79%)
Poor nail formation	Sageli (30–79%)
Premature aged appearance	Sageli (30–79%)
Scaling skin	Sageli (30–79%)
Skin plaque	Sageli (30–79%)
Sparse hair	Sageli (30–79%)
Thickening of upper layer of skin	Sageli (30–79%)
Abnormality of the nail	Mõnikord (5–29%)
Abnormality of the toenail	Mõnikord (5–29%)
Hair loss	Mõnikord (5–29%)
Hyperkeratotic papule	Mõnikord (5–29%)
Papule	Mõnikord (5–29%)
Thick nail	Mõnikord (5–29%)
Skin cancer	Harva (1–4%)
Skin nodule	Harva (1–4%)
Trichilemmoma	Harva (1–4%)
Atypical nail growth	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Decreased size of tooth	Alati
Dry eye syndrome	Alati
Sparse eyebrow	Alati
Sparse eyelashes	Alati
Sparse scalp hair	Alati
Abnormal dentition	Sageli (30–79%)
Hair loss on scalp from scarring condition	Sageli (30–79%)
Pink eye	Sageli (30–79%)
Absent/underdeveloped tear glands	Mõnikord (5–29%)
Cleft palate	Mõnikord (5–29%)
Inflammation of corners of the mouth	Mõnikord (5–29%)
Posterior blepharitis	Mõnikord (5–29%)
Abnormal facial shape	Harva (1–4%)
Dandy-Walker malformation	Harva (1–4%)
Inflamed gums	Harva (1–4%)
Lip fissure	Harva (1–4%)
Neoplasm of the tongue	Harva (1–4%)
Prominent forehead	Harva (1–4%)
Absent eyelashes	Pole registreeritud
Grooved tongue	Pole registreeritud
Ingrown eyelashes	Pole registreeritud
Oral white patch	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Corneal inflammation	Alati
Extreme sensitivity of the eyes to light	Alati
New blood vessel formation in cornea	Väga sageli (80–99%)
Damage to outer layer of the cornea of the eye	Sageli (30–79%)
Limbal stem cell deficiency	Sageli (30–79%)
Punctate keratitis	Sageli (30–79%)
Visual loss	Sageli (30–79%)
Blindness	Pole registreeritud
Corneal scarring	Pole registreeritud
Corneal ulceration	Pole registreeritud
Recurrent breakdown of clear protective layer of eye	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Honeycomb palmoplantar hyperkeratosis	Alati
Thickening of palms and soles	Alati
Thickening of the outer layer of the skin of the palms and soles	Alati
Autoamputation of digits	Väga sageli (80–99%)
Coxa valga	Harva (1–4%)
Equinus calcaneus	Harva (1–4%)
Inability to straighten knee	Harva (1–4%)
Small kneecap	Harva (1–4%)
Elbow flexion contracture	Pole registreeritud
High-arched foot	Pole registreeritud

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Red scaly skin caused by inflammatory skin disease	Alati
Recurrent skin infections	Sageli (30–79%)
Folliculitis	Mõnikord (5–29%)
Psoriasiform dermatitis	Mõnikord (5–29%)
Recurrent bacterial skin infections	Mõnikord (5–29%)
Recurrent Candida infection	Mõnikord (5–29%)
Recurrent cutaneous fungal infections	Mõnikord (5–29%)
Acne inversa	Harva (1–4%)
Infection in blood stream	Harva (1–4%)
Recurrent cutaneous abscess formation	Harva (1–4%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Hearing impairment	Alati
Sensorineural hearing impairment	Alati
Congenital sensorineural hearing impairment	Väga sageli (80–99%)
Prelingual sensorineural hearing impairment	Sageli (30–79%)
Severe sensorineural hearing impairment	Sageli (30–79%)
Abnormal vestibular function	Mõnikord (5–29%)
Mixed hearing impairment	Mõnikord (5–29%)

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Cognitive impairment	Sageli (30–79%)
Abnormality of the spinal cord	Mõnikord (5–29%)
Neurodevelopmental delay	Mõnikord (5–29%)
Self-injurious behavior	Mõnikord (5–29%)
Cerebellar vermis hypoplasia	Harva (1–4%)
Peripheral neuropathy	Harva (1–4%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Arthritis	Mõnikord (5–29%)
Breakdown of bone	Mõnikord (5–29%)
Delayed maturation of pubic bone	Harva (1–4%)
Knee pain	Harva (1–4%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Mõnikord (5–29%)
Growth delay as children	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Amniotic constriction ring	Väga sageli (80–99%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Hypogonadotropic hypogonadism	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 GJB2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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