AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymiai
Su GTF2E2 susiję požymiai
general transcription factor IIE subunit 2
Žmogaus fenotipo ontologija sieja 104 požymių su GTF2E2, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Abnormality of the nervous system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Global developmental delay | Visada |
| Abnormal pyramidal sign | Kartais (5–29%) |
| Cerebral dysmyelination | Kartais (5–29%) |
| Decrease in size of the outer layer of the brain due to loss of brain cells | Kartais (5–29%) |
| Decreased reflex response | Kartais (5–29%) |
| Difficulty articulating speech | Kartais (5–29%) |
| Diffuse cerebellar atrophy | Kartais (5–29%) |
| Generalized hyperreflexia | Kartais (5–29%) |
| Generalized-onset seizure | Kartais (5–29%) |
| Inability to coordinate movements when walking | Kartais (5–29%) |
| Intention tremor | Kartais (5–29%) |
| Paraplegia/paraparesis | Kartais (5–29%) |
| Partial agenesis of the corpus callosum | Kartais (5–29%) |
| Peripheral neuropathy | Kartais (5–29%) |
| Periventricular leukomalacia | Kartais (5–29%) |
| Poor social interactions | Kartais (5–29%) |
| Ventriculomegaly | Kartais (5–29%) |
| Wide based walk | Kartais (5–29%) |
| IQ between 34 and 49 | Neužfiksuota |
| Long-tract sign | Neužfiksuota |
| Motor delay | Neužfiksuota |
Abnormality of head or neck
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abnormally small head | Visada |
| Absence of scalp hair | Kartais (5–29%) |
| Bird-like facial appearance | Kartais (5–29%) |
| Coarse facial features | Kartais (5–29%) |
| Deformity of the skull | Kartais (5–29%) |
| Dental cavities | Kartais (5–29%) |
| Dry eye syndrome | Kartais (5–29%) |
| Everted eyelid | Kartais (5–29%) |
| Eye folds | Kartais (5–29%) |
| High, narrow palate | Kartais (5–29%) |
| Hypoplasia of mandible relative to maxilla | Kartais (5–29%) |
| Pink eye | Kartais (5–29%) |
| Receding chin | Kartais (5–29%) |
| Sparse scalp hair | Kartais (5–29%) |
| Thin dental enamel | Kartais (5–29%) |
| Coronal craniosynostosis | Neužfiksuota |
Abnormality of the integument
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Brittle hair | Visada |
| Dry skin | Visada |
| Ichthyosis | Visada |
| Tiger tail banding | Visada |
| Absent/small nails | Kartais (5–29%) |
| Brittle nails | Kartais (5–29%) |
| Grooved nails | Kartais (5–29%) |
| Longitudinal splitting of nail | Kartais (5–29%) |
| Numerous pigmented freckles | Kartais (5–29%) |
| Photosensitive skin | Kartais (5–29%) |
| Poor fingernail formation | Kartais (5–29%) |
| Prematurely aged appearance | Kartais (5–29%) |
| Spoon-shaped nails | Kartais (5–29%) |
| Squamous cell carcinoma | Kartais (5–29%) |
| Slow-growing hair | Neužfiksuota |
Abnormality of the eye
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abnormally close eyes | Kartais (5–29%) |
| Abnormally small eyeball on both sides | Kartais (5–29%) |
| Astigmatism | Kartais (5–29%) |
| Close sighted | Kartais (5–29%) |
| Clouding of the lens of the eye at birth | Kartais (5–29%) |
| Cornea of eye less than 10mm in diameter | Kartais (5–29%) |
| Cross-eyed | Kartais (5–29%) |
| Extreme sensitivity of the eyes to light | Kartais (5–29%) |
| Involuntary, rapid, rhythmic eye movements | Kartais (5–29%) |
| Inward turning cross eyed | Kartais (5–29%) |
| Macular degeneration | Kartais (5–29%) |
| Retina degeneration | Kartais (5–29%) |
| Wide-set eyes | Kartais (5–29%) |
Abnormality of the musculoskeletal system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Delayed bone maturation | Dažnai (30–79%) |
| Absent fat below the skin | Kartais (5–29%) |
| Generalized decreased muscle tone | Kartais (5–29%) |
| Increased bone mineral density | Kartais (5–29%) |
| Involuntary muscle stiffness, contraction, or spasm | Kartais (5–29%) |
| Joint dislocation | Kartais (5–29%) |
| Multiple joint contractures | Kartais (5–29%) |
| Osteopenia | Kartais (5–29%) |
| Spasticity and rigidity of muscles | Kartais (5–29%) |
| Thoracic kyphosis | Kartais (5–29%) |
Abnormality of blood and blood-forming tissues
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Decreased mean corpuscular volume | Visada |
| Increased HbA2 hemoglobin | Visada |
| Increased mean corpuscular hemoglobin concentration | Kartais (5–29%) |
| Low blood neutrophil count | Kartais (5–29%) |
| Low number of red blood cells or hemoglobin | Kartais (5–29%) |
Abnormality of the immune system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Congenital exfoliative erythroderma | Kartais (5–29%) |
| Eczema | Kartais (5–29%) |
| Recurrent infections | Kartais (5–29%) |
| Recurrent infections in bronchi and lungs | Kartais (5–29%) |
Growth abnormality
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Short stature | Visada |
| Prenatal growth deficiency | Kartais (5–29%) |
| Mild intrauterine growth retardation | Neužfiksuota |
| Small for gestational age | Neužfiksuota |
Abnormality of limbs
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Clubbing of fingers and toes | Kartais (5–29%) |
| Coxa valga | Kartais (5–29%) |
| High-arched foot | Kartais (5–29%) |
Abnormal cellular phenotype
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Defective DNA repair after ultraviolet radiation damage | Kartais (5–29%) |
| Panhypogammaglobulinemia | Kartais (5–29%) |
Abnormality of the cardiovascular system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Disease of the heart muscle | Kartais (5–29%) |
| Hole in heart wall separating two lower heart chambers | Kartais (5–29%) |
Abnormality of the ear
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Bilateral sensorineural hearing impairment | Kartais (5–29%) |
| Prominent ear | Kartais (5–29%) |
Abnormality of the genitourinary system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Gonadal dysgenesis | Kartais (5–29%) |
| Undescended testes | Kartais (5–29%) |
Abnormality of prenatal development or birth
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abnormality of prenatal development or birth | Kartais (5–29%) |
Abnormality of the breast
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Low-set nipples | Kartais (5–29%) |
Abnormality of the digestive system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Umbilical hernia | Kartais (5–29%) |
Abnormality of the respiratory system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Bronchoconstriction | Kartais (5–29%) |
Abnormality of the voice
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Inability to produce voice sounds | Kartais (5–29%) |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su GTF2E2 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
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