Tunnused

Geeniga GJA8 seotud tunnused

gap junction protein alpha 8

Inimese fenotüübi ontoloogia seostab geeniga GJA8 104 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of head or neck

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

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Pulverulent cataract	Alati
Yellowish cloudy center of lens	Alati
Clouding of the lens of the eye	Väga sageli (80–99%)
Cornea of eye less than 10mm in diameter	Väga sageli (80–99%)
Close sighted	Sageli (30–79%)
Cat eye	Mõnikord (5–29%)
Corneal dystrophy	Mõnikord (5–29%)
Corneal opacity	Mõnikord (5–29%)
Cross-eyed	Mõnikord (5–29%)
Deeply set eye	Mõnikord (5–29%)
Farsightedness	Mõnikord (5–29%)
Involuntary, rapid, rhythmic eye movements	Mõnikord (5–29%)
Abnormally close eyes	Harva (1–4%)
Abnormally small eyeball	Harva (1–4%)
Duane anomaly	Harva (1–4%)
Esodeviation	Harva (1–4%)
Exophoria	Harva (1–4%)
Nuclear pulverulent cataract	Harva (1–4%)
Sutural cataract	Harva (1–4%)
Wide-set eyes	Harva (1–4%)
Posterior subcapsular cataract	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Curvature of little finger	Mõnikord (5–29%)
Single transverse palmar crease	Mõnikord (5–29%)
Broad big toe	Harva (1–4%)
Broad thumb	Harva (1–4%)
Central polydactyly of feet	Harva (1–4%)
Dropped arches	Harva (1–4%)
Duplication of thumb phalanx	Harva (1–4%)
Overlapping toe	Harva (1–4%)
Prominent fingertip pads	Harva (1–4%)
Short fingers or toes	Harva (1–4%)
Short outermost finger bone	Harva (1–4%)
Talipes	Harva (1–4%)

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Global developmental delay	Sageli (30–79%)
Epilepsy	Mõnikord (5–29%)
Repetitive movements	Mõnikord (5–29%)
Autism	Harva (1–4%)
Behavioral abnormality	Harva (1–4%)
Brief seizures with staring spells	Harva (1–4%)
Delayed speech and language development	Harva (1–4%)
Grand mal seizures	Harva (1–4%)
Self-injurious behavior	Harva (1–4%)
Tremor	Harva (1–4%)
Intellectual disability	Pole registreeritud
Schizophrenia	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Patent ductus arteriosus	Mõnikord (5–29%)
An opening in the wall separating the top two chambers of the heart	Harva (1–4%)
Aortic regurgitation	Harva (1–4%)
Aortic valve has two leaflets rather than three	Harva (1–4%)
Bulging of wall of large artery located above heart	Harva (1–4%)
Muscular ventricular septal defect	Harva (1–4%)
Narrowing of aorta	Harva (1–4%)
Palmoplantar erythema	Harva (1–4%)
Perimembranous ventricular septal defect	Harva (1–4%)
Transposition of the great arteries	Harva (1–4%)
Truncus arteriosus	Harva (1–4%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Double-Jointed	Mõnikord (5–29%)
Low muscle tone	Mõnikord (5–29%)
Funnel chest	Harva (1–4%)
Low muscle tone in trunk	Harva (1–4%)
Permanent flexion of the finger or toe	Harva (1–4%)
Scoliosis	Harva (1–4%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Low-set ears	Harva (1–4%)
Prominent ear	Harva (1–4%)
Sensorineural hearing impairment	Harva (1–4%)
Simple ear	Harva (1–4%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Harva (1–4%)
Truncal obesity	Harva (1–4%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Frontal balding	Harva (1–4%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga GJA8 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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