Trăsături

Trăsături asociate cu GTF2E2

general transcription factor IIE subunit 2

Human Phenotype Ontology asociază 104 trăsături cu GTF2E2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Global developmental delay	Întotdeauna
Abnormal pyramidal sign	Uneori (5–29%)
Cerebral dysmyelination	Uneori (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Uneori (5–29%)
Decreased reflex response	Uneori (5–29%)
Difficulty articulating speech	Uneori (5–29%)
Diffuse cerebellar atrophy	Uneori (5–29%)
Generalized hyperreflexia	Uneori (5–29%)
Generalized-onset seizure	Uneori (5–29%)
Inability to coordinate movements when walking	Uneori (5–29%)
Intention tremor	Uneori (5–29%)
Paraplegia/paraparesis	Uneori (5–29%)
Partial agenesis of the corpus callosum	Uneori (5–29%)
Peripheral neuropathy	Uneori (5–29%)
Periventricular leukomalacia	Uneori (5–29%)
Poor social interactions	Uneori (5–29%)
Ventriculomegaly	Uneori (5–29%)
Wide based walk	Uneori (5–29%)
IQ between 34 and 49	Neînregistrat
Long-tract sign	Neînregistrat
Motor delay	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormally small head	Întotdeauna
Absence of scalp hair	Uneori (5–29%)
Bird-like facial appearance	Uneori (5–29%)
Coarse facial features	Uneori (5–29%)
Deformity of the skull	Uneori (5–29%)
Dental cavities	Uneori (5–29%)
Dry eye syndrome	Uneori (5–29%)
Everted eyelid	Uneori (5–29%)
Eye folds	Uneori (5–29%)
High, narrow palate	Uneori (5–29%)
Hypoplasia of mandible relative to maxilla	Uneori (5–29%)
Pink eye	Uneori (5–29%)
Receding chin	Uneori (5–29%)
Sparse scalp hair	Uneori (5–29%)
Thin dental enamel	Uneori (5–29%)
Coronal craniosynostosis	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Brittle hair	Întotdeauna
Dry skin	Întotdeauna
Ichthyosis	Întotdeauna
Tiger tail banding	Întotdeauna
Absent/small nails	Uneori (5–29%)
Brittle nails	Uneori (5–29%)
Grooved nails	Uneori (5–29%)
Longitudinal splitting of nail	Uneori (5–29%)
Numerous pigmented freckles	Uneori (5–29%)
Photosensitive skin	Uneori (5–29%)
Poor fingernail formation	Uneori (5–29%)
Prematurely aged appearance	Uneori (5–29%)
Spoon-shaped nails	Uneori (5–29%)
Squamous cell carcinoma	Uneori (5–29%)
Slow-growing hair	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormally close eyes	Uneori (5–29%)
Abnormally small eyeball on both sides	Uneori (5–29%)
Astigmatism	Uneori (5–29%)
Close sighted	Uneori (5–29%)
Clouding of the lens of the eye at birth	Uneori (5–29%)
Cornea of eye less than 10mm in diameter	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Extreme sensitivity of the eyes to light	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Inward turning cross eyed	Uneori (5–29%)
Macular degeneration	Uneori (5–29%)
Retina degeneration	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Delayed bone maturation	Des (30–79%)
Absent fat below the skin	Uneori (5–29%)
Generalized decreased muscle tone	Uneori (5–29%)
Increased bone mineral density	Uneori (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Uneori (5–29%)
Joint dislocation	Uneori (5–29%)
Multiple joint contractures	Uneori (5–29%)
Osteopenia	Uneori (5–29%)
Spasticity and rigidity of muscles	Uneori (5–29%)
Thoracic kyphosis	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Decreased mean corpuscular volume	Întotdeauna
Increased HbA2 hemoglobin	Întotdeauna
Increased mean corpuscular hemoglobin concentration	Uneori (5–29%)
Low blood neutrophil count	Uneori (5–29%)
Low number of red blood cells or hemoglobin	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Congenital exfoliative erythroderma	Uneori (5–29%)
Eczema	Uneori (5–29%)
Recurrent infections	Uneori (5–29%)
Recurrent infections in bronchi and lungs	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Short stature	Întotdeauna
Prenatal growth deficiency	Uneori (5–29%)
Mild intrauterine growth retardation	Neînregistrat
Small for gestational age	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Clubbing of fingers and toes	Uneori (5–29%)
Coxa valga	Uneori (5–29%)
High-arched foot	Uneori (5–29%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Defective DNA repair after ultraviolet radiation damage	Uneori (5–29%)
Panhypogammaglobulinemia	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Disease of the heart muscle	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Bilateral sensorineural hearing impairment	Uneori (5–29%)
Prominent ear	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Gonadal dysgenesis	Uneori (5–29%)
Undescended testes	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Abnormality of prenatal development or birth	Uneori (5–29%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Low-set nipples	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Umbilical hernia	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Bronchoconstriction	Uneori (5–29%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Inability to produce voice sounds	Uneori (5–29%)

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 GTF2E2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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