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	Ne sıklıkla görüldüğü
Absent axillary hair	Her zaman
Absent pubic hair	Her zaman
Cobblestone-like hyperkeratosis	Her zaman
Decreased ability to sweat	Her zaman
Hyperkeratosis	Her zaman
Ichthyosis	Her zaman
Squamous cell carcinoma	Her zaman
Knuckle pad	Çok sık (%80–99)
White discoloration of nails	Çok sık (%80–99)
Congenital ichthyosiform erythroderma	Sık (%30–79)
Follicular hyperkeratosis	Sık (%30–79)
Poor nail formation	Sık (%30–79)
Premature aged appearance	Sık (%30–79)
Scaling skin	Sık (%30–79)
Skin plaque	Sık (%30–79)
Sparse hair	Sık (%30–79)
Thickening of upper layer of skin	Sık (%30–79)
Abnormality of the nail	Bazen (%5–29)
Abnormality of the toenail	Bazen (%5–29)
Hair loss	Bazen (%5–29)
Hyperkeratotic papule	Bazen (%5–29)
Papule	Bazen (%5–29)
Thick nail	Bazen (%5–29)
Skin cancer	Seyrek (%1–4)
Skin nodule	Seyrek (%1–4)
Trichilemmoma	Seyrek (%1–4)
Atypical nail growth	Kaydedilmedi

Abnormality of head or neck

Trait	Ne sıklıkla görüldüğü
Decreased size of tooth	Her zaman
Dry eye syndrome	Her zaman
Sparse eyebrow	Her zaman
Sparse eyelashes	Her zaman
Sparse scalp hair	Her zaman
Abnormal dentition	Sık (%30–79)
Hair loss on scalp from scarring condition	Sık (%30–79)
Pink eye	Sık (%30–79)
Absent/underdeveloped tear glands	Bazen (%5–29)
Cleft palate	Bazen (%5–29)
Inflammation of corners of the mouth	Bazen (%5–29)
Posterior blepharitis	Bazen (%5–29)
Abnormal facial shape	Seyrek (%1–4)
Dandy-Walker malformation	Seyrek (%1–4)
Inflamed gums	Seyrek (%1–4)
Lip fissure	Seyrek (%1–4)
Neoplasm of the tongue	Seyrek (%1–4)
Prominent forehead	Seyrek (%1–4)
Absent eyelashes	Kaydedilmedi
Grooved tongue	Kaydedilmedi
Ingrown eyelashes	Kaydedilmedi
Oral white patch	Kaydedilmedi

Abnormality of the eye

Trait	Ne sıklıkla görüldüğü
Corneal inflammation	Her zaman
Extreme sensitivity of the eyes to light	Her zaman
New blood vessel formation in cornea	Çok sık (%80–99)
Damage to outer layer of the cornea of the eye	Sık (%30–79)
Limbal stem cell deficiency	Sık (%30–79)
Punctate keratitis	Sık (%30–79)
Visual loss	Sık (%30–79)
Blindness	Kaydedilmedi
Corneal scarring	Kaydedilmedi
Corneal ulceration	Kaydedilmedi
Recurrent breakdown of clear protective layer of eye	Kaydedilmedi

Abnormality of limbs

Trait	Ne sıklıkla görüldüğü
Honeycomb palmoplantar hyperkeratosis	Her zaman
Thickening of palms and soles	Her zaman
Thickening of the outer layer of the skin of the palms and soles	Her zaman
Autoamputation of digits	Çok sık (%80–99)
Coxa valga	Seyrek (%1–4)
Equinus calcaneus	Seyrek (%1–4)
Inability to straighten knee	Seyrek (%1–4)
Small kneecap	Seyrek (%1–4)
Elbow flexion contracture	Kaydedilmedi
High-arched foot	Kaydedilmedi

Abnormality of the immune system

Trait	Ne sıklıkla görüldüğü
Red scaly skin caused by inflammatory skin disease	Her zaman
Recurrent skin infections	Sık (%30–79)
Folliculitis	Bazen (%5–29)
Psoriasiform dermatitis	Bazen (%5–29)
Recurrent bacterial skin infections	Bazen (%5–29)
Recurrent Candida infection	Bazen (%5–29)
Recurrent cutaneous fungal infections	Bazen (%5–29)
Acne inversa	Seyrek (%1–4)
Infection in blood stream	Seyrek (%1–4)
Recurrent cutaneous abscess formation	Seyrek (%1–4)

Abnormality of the ear

Trait	Ne sıklıkla görüldüğü
Hearing impairment	Her zaman
Sensorineural hearing impairment	Her zaman
Congenital sensorineural hearing impairment	Çok sık (%80–99)
Prelingual sensorineural hearing impairment	Sık (%30–79)
Severe sensorineural hearing impairment	Sık (%30–79)
Abnormal vestibular function	Bazen (%5–29)
Mixed hearing impairment	Bazen (%5–29)

Abnormality of the nervous system

Trait	Ne sıklıkla görüldüğü
Cognitive impairment	Sık (%30–79)
Abnormality of the spinal cord	Bazen (%5–29)
Neurodevelopmental delay	Bazen (%5–29)
Self-injurious behavior	Bazen (%5–29)
Cerebellar vermis hypoplasia	Seyrek (%1–4)
Peripheral neuropathy	Seyrek (%1–4)

Abnormality of the musculoskeletal system

Trait	Ne sıklıkla görüldüğü
Arthritis	Bazen (%5–29)
Breakdown of bone	Bazen (%5–29)
Delayed maturation of pubic bone	Seyrek (%1–4)
Knee pain	Seyrek (%1–4)

Growth abnormality

Trait	Ne sıklıkla görüldüğü
Faltering weight	Bazen (%5–29)
Growth delay as children	Bazen (%5–29)

Abnormality of prenatal development or birth

Trait	Ne sıklıkla görüldüğü
Amniotic constriction ring	Çok sık (%80–99)

Abnormality of the endocrine system

Trait	Ne sıklıkla görüldüğü
Hypogonadotropic hypogonadism	Sık (%30–79)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

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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