Özellikler

GJA8 ile ilişkili özellikler

gap junction protein alpha 8

Human Phenotype Ontology, GJA8 ile ilişkili 104 özelliği vücut sistemine göre listeliyor: genin nadir hastalıklarından birine sahip kişilerde görülen özellikler.

Abnormality of head or neck

Özellik	Ne sıklıkla görüldüğü
Abnormally small head	Sık (%30–79)
Broad head shape	Bazen (%5–29)
Decreased volume of lip	Bazen (%5–29)
Depressed nasal bridge	Bazen (%5–29)
Eye folds	Bazen (%5–29)
Full lower lip	Bazen (%5–29)
High palate	Bazen (%5–29)
Little lower jaw	Bazen (%5–29)
Low hanging columella	Bazen (%5–29)
Prominent nasal bridge	Bazen (%5–29)
Short neck	Bazen (%5–29)
Thin red part of the upper lip	Bazen (%5–29)
Upward slanting of the opening between the eyelids	Bazen (%5–29)
Bifid uvula	Seyrek (%1–4)
Big lower jaw	Seyrek (%1–4)
Decreased size of tooth	Seyrek (%1–4)
Highly arched eyebrow	Seyrek (%1–4)
Long lower eyelashes	Seyrek (%1–4)
Long philtrum	Seyrek (%1–4)
Monobrow	Seyrek (%1–4)
Nasal tip, upturned	Seyrek (%1–4)
Pointed chin	Seyrek (%1–4)
Prominent back of the head	Seyrek (%1–4)
Prominent forehead	Seyrek (%1–4)
Prominent metopic ridge	Seyrek (%1–4)
Prominent nose	Seyrek (%1–4)
Round face	Seyrek (%1–4)
Short opening between the eyelids	Seyrek (%1–4)
Smooth philtrum	Seyrek (%1–4)
Tall shaped head	Seyrek (%1–4)
Triangular face	Seyrek (%1–4)
Widely spaced teeth	Seyrek (%1–4)
Zygomatic flattening	Seyrek (%1–4)
Bulbous nose	Kaydedilmedi
Frontal bossing	Kaydedilmedi

Abnormality of the eye

Özellik	Ne sıklıkla görüldüğü
Pulverulent cataract	Her zaman
Yellowish cloudy center of lens	Her zaman
Clouding of the lens of the eye	Çok sık (%80–99)
Cornea of eye less than 10mm in diameter	Çok sık (%80–99)
Close sighted	Sık (%30–79)
Cat eye	Bazen (%5–29)
Corneal dystrophy	Bazen (%5–29)
Corneal opacity	Bazen (%5–29)
Cross-eyed	Bazen (%5–29)
Deeply set eye	Bazen (%5–29)
Farsightedness	Bazen (%5–29)
Involuntary, rapid, rhythmic eye movements	Bazen (%5–29)
Abnormally close eyes	Seyrek (%1–4)
Abnormally small eyeball	Seyrek (%1–4)
Duane anomaly	Seyrek (%1–4)
Esodeviation	Seyrek (%1–4)
Exophoria	Seyrek (%1–4)
Nuclear pulverulent cataract	Seyrek (%1–4)
Sutural cataract	Seyrek (%1–4)
Wide-set eyes	Seyrek (%1–4)
Posterior subcapsular cataract	Kaydedilmedi

Abnormality of limbs

Özellik	Ne sıklıkla görüldüğü
Curvature of little finger	Bazen (%5–29)
Single transverse palmar crease	Bazen (%5–29)
Broad big toe	Seyrek (%1–4)
Broad thumb	Seyrek (%1–4)
Central polydactyly of feet	Seyrek (%1–4)
Dropped arches	Seyrek (%1–4)
Duplication of thumb phalanx	Seyrek (%1–4)
Overlapping toe	Seyrek (%1–4)
Prominent fingertip pads	Seyrek (%1–4)
Short fingers or toes	Seyrek (%1–4)
Short outermost finger bone	Seyrek (%1–4)
Talipes	Seyrek (%1–4)

Abnormality of the nervous system

Özellik	Ne sıklıkla görüldüğü
Global developmental delay	Sık (%30–79)
Epilepsy	Bazen (%5–29)
Repetitive movements	Bazen (%5–29)
Autism	Seyrek (%1–4)
Behavioral abnormality	Seyrek (%1–4)
Brief seizures with staring spells	Seyrek (%1–4)
Delayed speech and language development	Seyrek (%1–4)
Grand mal seizures	Seyrek (%1–4)
Self-injurious behavior	Seyrek (%1–4)
Tremor	Seyrek (%1–4)
Intellectual disability	Kaydedilmedi
Schizophrenia	Kaydedilmedi

Abnormality of the cardiovascular system

Özellik	Ne sıklıkla görüldüğü
Patent ductus arteriosus	Bazen (%5–29)
An opening in the wall separating the top two chambers of the heart	Seyrek (%1–4)
Aortic regurgitation	Seyrek (%1–4)
Aortic valve has two leaflets rather than three	Seyrek (%1–4)
Bulging of wall of large artery located above heart	Seyrek (%1–4)
Muscular ventricular septal defect	Seyrek (%1–4)
Narrowing of aorta	Seyrek (%1–4)
Palmoplantar erythema	Seyrek (%1–4)
Perimembranous ventricular septal defect	Seyrek (%1–4)
Transposition of the great arteries	Seyrek (%1–4)
Truncus arteriosus	Seyrek (%1–4)

Abnormality of the musculoskeletal system

Özellik	Ne sıklıkla görüldüğü
Double-Jointed	Bazen (%5–29)
Low muscle tone	Bazen (%5–29)
Funnel chest	Seyrek (%1–4)
Low muscle tone in trunk	Seyrek (%1–4)
Permanent flexion of the finger or toe	Seyrek (%1–4)
Scoliosis	Seyrek (%1–4)

Abnormality of the ear

Özellik	Ne sıklıkla görüldüğü
Low-set ears	Seyrek (%1–4)
Prominent ear	Seyrek (%1–4)
Sensorineural hearing impairment	Seyrek (%1–4)
Simple ear	Seyrek (%1–4)

Growth abnormality

Özellik	Ne sıklıkla görüldüğü
Faltering weight	Seyrek (%1–4)
Truncal obesity	Seyrek (%1–4)

Abnormality of the integument

Özellik	Ne sıklıkla görüldüğü
Frontal balding	Seyrek (%1–4)

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

Human Phenotype Ontology, 2026-09-01 sürümü: GJA8 ile ilişkili özellikler ve her birinin ne sıklıkla görüldüğü. Daha fazla bilgi için hpo.jax.org adresini ziyaret edin.

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