AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymiai
Su RNF113A susiję požymiai
ring finger protein 113A
Žmogaus fenotipo ontologija sieja 116 požymių su RNF113A, 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 head or neck
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Big lower jaw | Visada |
| Dandy-Walker malformation | Visada |
| High forehead | Visada |
| Progressively abnormally small cranium | Visada |
| Sparse eyebrow | Visada |
| Wide gaps between baby teeth | Visada |
| Wide mouth | Visada |
| Abnormally small head | Kartais (5–29%) |
| 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%) |
Abnormality of the nervous system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Delayed speech and language development | Visada |
| Inability to coordinate movements when walking | Visada |
| IQ less than 20 | Visada |
| Small cerebellum | Visada |
| Wide based walk | 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%) |
| Global developmental delay | 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%) |
| Generalized brain degeneration | Neužfiksuota |
Abnormality of the integument
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Brittle hair | Visada |
| Premature aged appearance | Visada |
| Reduced hair sulfur content | Visada |
| Slow-growing hair | Visada |
| Sparse hair | Visada |
| Tiger tail banding | Visada |
| Absent/small nails | Kartais (5–29%) |
| Brittle nails | Kartais (5–29%) |
| Dry skin | Kartais (5–29%) |
| Grooved nails | Kartais (5–29%) |
| Ichthyosis | 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%) |
Abnormality of the eye
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Breakdown of light-sensitive cells in back of eye | Dažnai (30–79%) |
| Optic nerve hypoplasia | Dažnai (30–79%) |
| 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 |
|---|---|
| Absent fat below the skin | Kartais (5–29%) |
| Delayed bone maturation | 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 the genitourinary system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Decreased testicular size | Visada |
| Short penis | Visada |
| Gonadal dysgenesis | Kartais (5–29%) |
| Undescended testes | Kartais (5–29%) |
Abnormality of the immune system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Recurrent infections | Visada |
| Congenital exfoliative erythroderma | Kartais (5–29%) |
| Eczema | Kartais (5–29%) |
| Recurrent infections in bronchi and lungs | Kartais (5–29%) |
Abnormal cellular phenotype
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Chronic decreased circulating IgG1 concentration | Dažnai (30–79%) |
| Defective DNA repair after ultraviolet radiation damage | Kartais (5–29%) |
| Panhypogammaglobulinemia | Kartais (5–29%) |
Abnormality of blood and blood-forming tissues
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| 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 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%) |
| Cutis marmorata | Neužfiksuota |
Abnormality of the digestive system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Umbilical hernia | Kartais (5–29%) |
| Chronic diarrhea | Neužfiksuota |
Abnormality of the ear
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Bilateral sensorineural hearing impairment | Kartais (5–29%) |
| Prominent ear | Kartais (5–29%) |
Growth abnormality
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Prenatal growth deficiency | Visada |
| Short stature | Visada |
Abnormality of limbs
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Clubbing of fingers and toes | 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 endocrine system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Panhypopituitarism | Dažnai (30–79%) |
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 RNF113A susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.
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PrisijungtiKlaustiSekvenuokite savo genomą↗
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