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	나타나는 빈도
Absent axillary hair	항상
Absent pubic hair	항상
Cobblestone-like hyperkeratosis	항상
Decreased ability to sweat	항상
Hyperkeratosis	항상
Ichthyosis	항상
Squamous cell carcinoma	항상
Knuckle pad	매우 자주 (80–99%)
White discoloration of nails	매우 자주 (80–99%)
Congenital ichthyosiform erythroderma	자주 (30–79%)
Follicular hyperkeratosis	자주 (30–79%)
Poor nail formation	자주 (30–79%)
Premature aged appearance	자주 (30–79%)
Scaling skin	자주 (30–79%)
Skin plaque	자주 (30–79%)
Sparse hair	자주 (30–79%)
Thickening of upper layer of skin	자주 (30–79%)
Abnormality of the nail	가끔 (5–29%)
Abnormality of the toenail	가끔 (5–29%)
Hair loss	가끔 (5–29%)
Hyperkeratotic papule	가끔 (5–29%)
Papule	가끔 (5–29%)
Thick nail	가끔 (5–29%)
Skin cancer	드물게 (1–4%)
Skin nodule	드물게 (1–4%)
Trichilemmoma	드물게 (1–4%)
Atypical nail growth	기록되지 않음

Trait	나타나는 빈도
Decreased size of tooth	항상
Dry eye syndrome	항상
Sparse eyebrow	항상
Sparse eyelashes	항상
Sparse scalp hair	항상
Abnormal dentition	자주 (30–79%)
Hair loss on scalp from scarring condition	자주 (30–79%)
Pink eye	자주 (30–79%)
Absent/underdeveloped tear glands	가끔 (5–29%)
Cleft palate	가끔 (5–29%)
Inflammation of corners of the mouth	가끔 (5–29%)
Posterior blepharitis	가끔 (5–29%)
Abnormal facial shape	드물게 (1–4%)
Dandy-Walker malformation	드물게 (1–4%)
Inflamed gums	드물게 (1–4%)
Lip fissure	드물게 (1–4%)
Neoplasm of the tongue	드물게 (1–4%)
Prominent forehead	드물게 (1–4%)
Absent eyelashes	기록되지 않음
Grooved tongue	기록되지 않음
Ingrown eyelashes	기록되지 않음
Oral white patch	기록되지 않음

Trait	나타나는 빈도
Corneal inflammation	항상
Extreme sensitivity of the eyes to light	항상
New blood vessel formation in cornea	매우 자주 (80–99%)
Damage to outer layer of the cornea of the eye	자주 (30–79%)
Limbal stem cell deficiency	자주 (30–79%)
Punctate keratitis	자주 (30–79%)
Visual loss	자주 (30–79%)
Blindness	기록되지 않음
Corneal scarring	기록되지 않음
Corneal ulceration	기록되지 않음
Recurrent breakdown of clear protective layer of eye	기록되지 않음

Trait	나타나는 빈도
Honeycomb palmoplantar hyperkeratosis	항상
Thickening of palms and soles	항상
Thickening of the outer layer of the skin of the palms and soles	항상
Autoamputation of digits	매우 자주 (80–99%)
Coxa valga	드물게 (1–4%)
Equinus calcaneus	드물게 (1–4%)
Inability to straighten knee	드물게 (1–4%)
Small kneecap	드물게 (1–4%)
Elbow flexion contracture	기록되지 않음
High-arched foot	기록되지 않음

Trait	나타나는 빈도
Red scaly skin caused by inflammatory skin disease	항상
Recurrent skin infections	자주 (30–79%)
Folliculitis	가끔 (5–29%)
Psoriasiform dermatitis	가끔 (5–29%)
Recurrent bacterial skin infections	가끔 (5–29%)
Recurrent Candida infection	가끔 (5–29%)
Recurrent cutaneous fungal infections	가끔 (5–29%)
Acne inversa	드물게 (1–4%)
Infection in blood stream	드물게 (1–4%)
Recurrent cutaneous abscess formation	드물게 (1–4%)

Trait	나타나는 빈도
Hearing impairment	항상
Sensorineural hearing impairment	항상
Congenital sensorineural hearing impairment	매우 자주 (80–99%)
Prelingual sensorineural hearing impairment	자주 (30–79%)
Severe sensorineural hearing impairment	자주 (30–79%)
Abnormal vestibular function	가끔 (5–29%)
Mixed hearing impairment	가끔 (5–29%)

Trait	나타나는 빈도
Cognitive impairment	자주 (30–79%)
Abnormality of the spinal cord	가끔 (5–29%)
Neurodevelopmental delay	가끔 (5–29%)
Self-injurious behavior	가끔 (5–29%)
Cerebellar vermis hypoplasia	드물게 (1–4%)
Peripheral neuropathy	드물게 (1–4%)

Trait	나타나는 빈도
Arthritis	가끔 (5–29%)
Breakdown of bone	가끔 (5–29%)
Delayed maturation of pubic bone	드물게 (1–4%)
Knee pain	드물게 (1–4%)

Trait	나타나는 빈도
Faltering weight	가끔 (5–29%)
Growth delay as children	가끔 (5–29%)

Trait	나타나는 빈도
Amniotic constriction ring	매우 자주 (80–99%)

Trait	나타나는 빈도
Hypogonadotropic hypogonadism	자주 (30–79%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

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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