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Trăsături

Trăsături asociate cu GJA8

gap junction protein alpha 8

Human Phenotype Ontology asociază 104 trăsături cu GJA8, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of head or neck

TrăsăturăCât de frecvent apare
Abnormally small headDes (30–79%)
Broad head shapeUneori (5–29%)
Decreased volume of lipUneori (5–29%)
Depressed nasal bridgeUneori (5–29%)
Eye foldsUneori (5–29%)
Full lower lipUneori (5–29%)
High palateUneori (5–29%)
Little lower jawUneori (5–29%)
Low hanging columellaUneori (5–29%)
Prominent nasal bridgeUneori (5–29%)
Short neckUneori (5–29%)
Thin red part of the upper lipUneori (5–29%)
Upward slanting of the opening between the eyelidsUneori (5–29%)
Bifid uvulaRar (1–4%)
Big lower jawRar (1–4%)
Decreased size of toothRar (1–4%)
Highly arched eyebrowRar (1–4%)
Long lower eyelashesRar (1–4%)
Long philtrumRar (1–4%)
MonobrowRar (1–4%)
Nasal tip, upturnedRar (1–4%)
Pointed chinRar (1–4%)
Prominent back of the headRar (1–4%)
Prominent foreheadRar (1–4%)
Prominent metopic ridgeRar (1–4%)
Prominent noseRar (1–4%)
Round faceRar (1–4%)
Short opening between the eyelidsRar (1–4%)
Smooth philtrumRar (1–4%)
Tall shaped headRar (1–4%)
Triangular faceRar (1–4%)
Widely spaced teethRar (1–4%)
Zygomatic flatteningRar (1–4%)
Bulbous noseNeînregistrat
Frontal bossingNeînregistrat

Abnormality of the eye

TrăsăturăCât de frecvent apare
Pulverulent cataractÎntotdeauna
Yellowish cloudy center of lensÎntotdeauna
Clouding of the lens of the eyeFoarte des (80–99%)
Cornea of eye less than 10mm in diameterFoarte des (80–99%)
Close sightedDes (30–79%)
Cat eyeUneori (5–29%)
Corneal dystrophyUneori (5–29%)
Corneal opacityUneori (5–29%)
Cross-eyedUneori (5–29%)
Deeply set eyeUneori (5–29%)
FarsightednessUneori (5–29%)
Involuntary, rapid, rhythmic eye movementsUneori (5–29%)
Abnormally close eyesRar (1–4%)
Abnormally small eyeballRar (1–4%)
Duane anomalyRar (1–4%)
EsodeviationRar (1–4%)
ExophoriaRar (1–4%)
Nuclear pulverulent cataractRar (1–4%)
Sutural cataractRar (1–4%)
Wide-set eyesRar (1–4%)
Posterior subcapsular cataractNeînregistrat

Abnormality of limbs

TrăsăturăCât de frecvent apare
Curvature of little fingerUneori (5–29%)
Single transverse palmar creaseUneori (5–29%)
Broad big toeRar (1–4%)
Broad thumbRar (1–4%)
Central polydactyly of feetRar (1–4%)
Dropped archesRar (1–4%)
Duplication of thumb phalanxRar (1–4%)
Overlapping toeRar (1–4%)
Prominent fingertip padsRar (1–4%)
Short fingers or toesRar (1–4%)
Short outermost finger boneRar (1–4%)
TalipesRar (1–4%)

Abnormality of the nervous system

TrăsăturăCât de frecvent apare
Global developmental delayDes (30–79%)
EpilepsyUneori (5–29%)
Repetitive movementsUneori (5–29%)
AutismRar (1–4%)
Behavioral abnormalityRar (1–4%)
Brief seizures with staring spellsRar (1–4%)
Delayed speech and language developmentRar (1–4%)
Grand mal seizuresRar (1–4%)
Self-injurious behaviorRar (1–4%)
TremorRar (1–4%)
Intellectual disabilityNeînregistrat
SchizophreniaNeînregistrat

Abnormality of the cardiovascular system

TrăsăturăCât de frecvent apare
Patent ductus arteriosusUneori (5–29%)
An opening in the wall separating the top two chambers of the heartRar (1–4%)
Aortic regurgitationRar (1–4%)
Aortic valve has two leaflets rather than threeRar (1–4%)
Bulging of wall of large artery located above heartRar (1–4%)
Muscular ventricular septal defectRar (1–4%)
Narrowing of aortaRar (1–4%)
Palmoplantar erythemaRar (1–4%)
Perimembranous ventricular septal defectRar (1–4%)
Transposition of the great arteriesRar (1–4%)
Truncus arteriosusRar (1–4%)

Abnormality of the musculoskeletal system

TrăsăturăCât de frecvent apare
Double-JointedUneori (5–29%)
Low muscle toneUneori (5–29%)
Funnel chestRar (1–4%)
Low muscle tone in trunkRar (1–4%)
Permanent flexion of the finger or toeRar (1–4%)
ScoliosisRar (1–4%)

Abnormality of the ear

TrăsăturăCât de frecvent apare
Low-set earsRar (1–4%)
Prominent earRar (1–4%)
Sensorineural hearing impairmentRar (1–4%)
Simple earRar (1–4%)

Growth abnormality

TrăsăturăCât de frecvent apare
Faltering weightRar (1–4%)
Truncal obesityRar (1–4%)

Abnormality of the integument

TrăsăturăCât de frecvent apare
Frontal baldingRar (1–4%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

  • Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu GJA8 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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