Tratti

Tratti collegati a GJA8

gap junction protein alpha 8

La Human Phenotype Ontology collega 104 tratti a GJA8, per sistema corporeo: caratteristiche osservate in persone con una delle condizioni rare del gene.

Abnormality of head or neck

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

Abnormality of the eye

Tratto	Frequenza di osservazione
Pulverulent cataract	Sempre
Yellowish cloudy center of lens	Sempre
Clouding of the lens of the eye	Molto spesso (80–99%)
Cornea of eye less than 10mm in diameter	Molto spesso (80–99%)
Close sighted	Spesso (30–79%)
Cat eye	A volte (5–29%)
Corneal dystrophy	A volte (5–29%)
Corneal opacity	A volte (5–29%)
Cross-eyed	A volte (5–29%)
Deeply set eye	A volte (5–29%)
Farsightedness	A volte (5–29%)
Involuntary, rapid, rhythmic eye movements	A volte (5–29%)
Abnormally close eyes	Raramente (1–4%)
Abnormally small eyeball	Raramente (1–4%)
Duane anomaly	Raramente (1–4%)
Esodeviation	Raramente (1–4%)
Exophoria	Raramente (1–4%)
Nuclear pulverulent cataract	Raramente (1–4%)
Sutural cataract	Raramente (1–4%)
Wide-set eyes	Raramente (1–4%)
Posterior subcapsular cataract	Non registrato

Abnormality of limbs

Tratto	Frequenza di osservazione
Curvature of little finger	A volte (5–29%)
Single transverse palmar crease	A volte (5–29%)
Broad big toe	Raramente (1–4%)
Broad thumb	Raramente (1–4%)
Central polydactyly of feet	Raramente (1–4%)
Dropped arches	Raramente (1–4%)
Duplication of thumb phalanx	Raramente (1–4%)
Overlapping toe	Raramente (1–4%)
Prominent fingertip pads	Raramente (1–4%)
Short fingers or toes	Raramente (1–4%)
Short outermost finger bone	Raramente (1–4%)
Talipes	Raramente (1–4%)

Abnormality of the nervous system

Tratto	Frequenza di osservazione
Global developmental delay	Spesso (30–79%)
Epilepsy	A volte (5–29%)
Repetitive movements	A volte (5–29%)
Autism	Raramente (1–4%)
Behavioral abnormality	Raramente (1–4%)
Brief seizures with staring spells	Raramente (1–4%)
Delayed speech and language development	Raramente (1–4%)
Grand mal seizures	Raramente (1–4%)
Self-injurious behavior	Raramente (1–4%)
Tremor	Raramente (1–4%)
Intellectual disability	Non registrato
Schizophrenia	Non registrato

Abnormality of the cardiovascular system

Tratto	Frequenza di osservazione
Patent ductus arteriosus	A volte (5–29%)
An opening in the wall separating the top two chambers of the heart	Raramente (1–4%)
Aortic regurgitation	Raramente (1–4%)
Aortic valve has two leaflets rather than three	Raramente (1–4%)
Bulging of wall of large artery located above heart	Raramente (1–4%)
Muscular ventricular septal defect	Raramente (1–4%)
Narrowing of aorta	Raramente (1–4%)
Palmoplantar erythema	Raramente (1–4%)
Perimembranous ventricular septal defect	Raramente (1–4%)
Transposition of the great arteries	Raramente (1–4%)
Truncus arteriosus	Raramente (1–4%)

Abnormality of the musculoskeletal system

Tratto	Frequenza di osservazione
Double-Jointed	A volte (5–29%)
Low muscle tone	A volte (5–29%)
Funnel chest	Raramente (1–4%)
Low muscle tone in trunk	Raramente (1–4%)
Permanent flexion of the finger or toe	Raramente (1–4%)
Scoliosis	Raramente (1–4%)

Abnormality of the ear

Tratto	Frequenza di osservazione
Low-set ears	Raramente (1–4%)
Prominent ear	Raramente (1–4%)
Sensorineural hearing impairment	Raramente (1–4%)
Simple ear	Raramente (1–4%)

Growth abnormality

Tratto	Frequenza di osservazione
Faltering weight	Raramente (1–4%)
Truncal obesity	Raramente (1–4%)

Abnormality of the integument

Tratto	Frequenza di osservazione
Frontal balding	Raramente (1–4%)

Con quale frequenza questo tratto si presenta tra le persone con una delle condizioni legate al gene, nella misura più alta riscontrata tra queste, secondo quanto registrato dall'Human Phenotype Ontology. Queste pagine descrivono tratti e la ricerca che li riguarda; non costituiscono una diagnosi, e per i sintomi il medico o il consulente genetico è la persona a cui rivolgersi.

Fonte dei dati

Human Phenotype Ontology, versione 2026-09-01: i tratti collegati a GJA8 e la frequenza con cui ciascuno viene osservato. Per saperne di più visiti hpo.jax.org.

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