Traits

Traits linked to GJB2

gap junction protein beta 2

The Human Phenotype Ontology links 101 traits to GJB2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the integument

Trait	Cât de frecvent apare
Absent axillary hair	Întotdeauna
Absent pubic hair	Întotdeauna
Cobblestone-like hyperkeratosis	Întotdeauna
Decreased ability to sweat	Întotdeauna
Hyperkeratosis	Întotdeauna
Ichthyosis	Întotdeauna
Squamous cell carcinoma	Întotdeauna
Knuckle pad	Foarte des (80–99%)
White discoloration of nails	Foarte des (80–99%)
Congenital ichthyosiform erythroderma	Des (30–79%)
Follicular hyperkeratosis	Des (30–79%)
Poor nail formation	Des (30–79%)
Premature aged appearance	Des (30–79%)
Scaling skin	Des (30–79%)
Skin plaque	Des (30–79%)
Sparse hair	Des (30–79%)
Thickening of upper layer of skin	Des (30–79%)
Abnormality of the nail	Uneori (5–29%)
Abnormality of the toenail	Uneori (5–29%)
Hair loss	Uneori (5–29%)
Hyperkeratotic papule	Uneori (5–29%)
Papule	Uneori (5–29%)
Thick nail	Uneori (5–29%)
Skin cancer	Rar (1–4%)
Skin nodule	Rar (1–4%)
Trichilemmoma	Rar (1–4%)
Atypical nail growth	Neînregistrat

Abnormality of head or neck

Trait	Cât de frecvent apare
Decreased size of tooth	Întotdeauna
Dry eye syndrome	Întotdeauna
Sparse eyebrow	Întotdeauna
Sparse eyelashes	Întotdeauna
Sparse scalp hair	Întotdeauna
Abnormal dentition	Des (30–79%)
Hair loss on scalp from scarring condition	Des (30–79%)
Pink eye	Des (30–79%)
Absent/underdeveloped tear glands	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Inflammation of corners of the mouth	Uneori (5–29%)
Posterior blepharitis	Uneori (5–29%)
Abnormal facial shape	Rar (1–4%)
Dandy-Walker malformation	Rar (1–4%)
Inflamed gums	Rar (1–4%)
Lip fissure	Rar (1–4%)
Neoplasm of the tongue	Rar (1–4%)
Prominent forehead	Rar (1–4%)
Absent eyelashes	Neînregistrat
Grooved tongue	Neînregistrat
Ingrown eyelashes	Neînregistrat
Oral white patch	Neînregistrat

Abnormality of the eye

Trait	Cât de frecvent apare
Corneal inflammation	Întotdeauna
Extreme sensitivity of the eyes to light	Întotdeauna
New blood vessel formation in cornea	Foarte des (80–99%)
Damage to outer layer of the cornea of the eye	Des (30–79%)
Limbal stem cell deficiency	Des (30–79%)
Punctate keratitis	Des (30–79%)
Visual loss	Des (30–79%)
Blindness	Neînregistrat
Corneal scarring	Neînregistrat
Corneal ulceration	Neînregistrat
Recurrent breakdown of clear protective layer of eye	Neînregistrat

Abnormality of limbs

Trait	Cât de frecvent apare
Honeycomb palmoplantar hyperkeratosis	Întotdeauna
Thickening of palms and soles	Întotdeauna
Thickening of the outer layer of the skin of the palms and soles	Întotdeauna
Autoamputation of digits	Foarte des (80–99%)
Coxa valga	Rar (1–4%)
Equinus calcaneus	Rar (1–4%)
Inability to straighten knee	Rar (1–4%)
Small kneecap	Rar (1–4%)
Elbow flexion contracture	Neînregistrat
High-arched foot	Neînregistrat

Abnormality of the immune system

Trait	Cât de frecvent apare
Red scaly skin caused by inflammatory skin disease	Întotdeauna
Recurrent skin infections	Des (30–79%)
Folliculitis	Uneori (5–29%)
Psoriasiform dermatitis	Uneori (5–29%)
Recurrent bacterial skin infections	Uneori (5–29%)
Recurrent Candida infection	Uneori (5–29%)
Recurrent cutaneous fungal infections	Uneori (5–29%)
Acne inversa	Rar (1–4%)
Infection in blood stream	Rar (1–4%)
Recurrent cutaneous abscess formation	Rar (1–4%)

Abnormality of the ear

Trait	Cât de frecvent apare
Hearing impairment	Întotdeauna
Sensorineural hearing impairment	Întotdeauna
Congenital sensorineural hearing impairment	Foarte des (80–99%)
Prelingual sensorineural hearing impairment	Des (30–79%)
Severe sensorineural hearing impairment	Des (30–79%)
Abnormal vestibular function	Uneori (5–29%)
Mixed hearing impairment	Uneori (5–29%)

Abnormality of the nervous system

Trait	Cât de frecvent apare
Cognitive impairment	Des (30–79%)
Abnormality of the spinal cord	Uneori (5–29%)
Neurodevelopmental delay	Uneori (5–29%)
Self-injurious behavior	Uneori (5–29%)
Cerebellar vermis hypoplasia	Rar (1–4%)
Peripheral neuropathy	Rar (1–4%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Arthritis	Uneori (5–29%)
Breakdown of bone	Uneori (5–29%)
Delayed maturation of pubic bone	Rar (1–4%)
Knee pain	Rar (1–4%)

Growth abnormality

Trait	Cât de frecvent apare
Faltering weight	Uneori (5–29%)
Growth delay as children	Uneori (5–29%)

Abnormality of prenatal development or birth

Trait	Cât de frecvent apare
Amniotic constriction ring	Foarte des (80–99%)

Abnormality of the endocrine system

Trait	Cât de frecvent apare
Hypogonadotropic hypogonadism	Des (30–79%)

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 GJB2 and how often each is seen. Find out more at hpo.jax.org.

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