Požymiai

Su SON susiję požymiai

SON DNA and RNA binding protein

Žmogaus fenotipo ontologija sieja 138 požymių su SON, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

SON

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Big calvaria	Visada
Decreased size of maxilla	Visada
Prominent forehead	Visada
Relatively large head	Visada
Short nose	Visada
Sparse eyebrow	Visada
Abnormal facial shape	Labai dažnai (80–99%)
Midface retrusion	Labai dažnai (80–99%)
Decreased volume of lip	Dažnai (30–79%)
Downward slanting of the opening between the eyelids	Dažnai (30–79%)
Eye folds	Dažnai (30–79%)
Bifid uvula	Kartais (5–29%)
Broad eyebrow	Kartais (5–29%)
Broad lateral eyebrow	Kartais (5–29%)
Cleft palate	Kartais (5–29%)
Deformity of the skull	Kartais (5–29%)
Depressed nasal bridge	Kartais (5–29%)
Downturned corners of mouth	Kartais (5–29%)
Early closure of midline skull joint	Kartais (5–29%)
Facial asymmetry	Kartais (5–29%)
Frontal bossing	Kartais (5–29%)
Full cheeks	Kartais (5–29%)
Metopic synostosis	Kartais (5–29%)
Narrow forehead	Kartais (5–29%)
Short philtrum	Kartais (5–29%)
Smooth philtrum	Kartais (5–29%)
Submucous cleft hard palate	Kartais (5–29%)
Submucous cleft soft palate	Kartais (5–29%)
Wide nasal bridge	Kartais (5–29%)
Abnormal dentition	Neužfiksuota
High palate	Neužfiksuota
Narrow mouth	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Delayed ability to crawl	Visada
Delayed ability to roll over	Visada
Delayed ability to sit	Visada
Delayed ability to walk	Visada
Global developmental delay	Visada
Intellectual disability	Visada
Intellectual disability, severe	Visada
Abnormal shape of brain	Labai dažnai (80–99%)
Abnormal cerebral cortex morphology	Dažnai (30–79%)
Autism spectrum disorder	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Generalized-onset seizure	Dažnai (30–79%)
Loss of developmental milestones	Dažnai (30–79%)
Underdevelopment of part of brain called corpus callosum	Dažnai (30–79%)
Ventriculomegaly	Dažnai (30–79%)
Abnormal cerebral white matter morphology	Kartais (5–29%)
Brief seizures with staring spells	Kartais (5–29%)
Cerebellar hemisphere hypoplasia	Kartais (5–29%)
Chiari malformation	Kartais (5–29%)
Dysplastic corpus callosum	Kartais (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Kartais (5–29%)
Generalized brain degeneration	Kartais (5–29%)
Hallucinations of sound	Kartais (5–29%)
Lateral ventricle dilatation	Kartais (5–29%)
More grooves in brain	Kartais (5–29%)
Periventricular leukomalacia	Kartais (5–29%)
Progressive ventriculomegaly	Kartais (5–29%)
Repeated seizures without recovery between them	Kartais (5–29%)
Simplified gyral pattern	Kartais (5–29%)
Small cerebellum	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Low muscle tone, in neonatal onset	Visada
Decreased muscle tone in infant	Dažnai (30–79%)
Double-Jointed	Dažnai (30–79%)
Low muscle tone	Dažnai (30–79%)
Cervical ribs	Kartais (5–29%)
Excessive inward curvature of lower spine	Kartais (5–29%)
Flexed joint that cannot be straightened	Kartais (5–29%)
Hyperextensibility at elbow	Kartais (5–29%)
Hyperextensible hand joints	Kartais (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Kartais (5–29%)
Kyphoscoliosis	Kartais (5–29%)
Missing part of vertebrae	Kartais (5–29%)
Rib fusion	Kartais (5–29%)
Scoliosis	Kartais (5–29%)
Slender long bone	Kartais (5–29%)
Hunched back	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Deeply set eye	Labai dažnai (80–99%)
Cross-eyed	Dažnai (30–79%)
Farsightedness	Dažnai (30–79%)
Blue outer white part of eyeball	Kartais (5–29%)
Cerebral visual impairment	Kartais (5–29%)
Close sighted	Kartais (5–29%)
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)
Inward turning cross eyed	Kartais (5–29%)
Optic atrophy	Kartais (5–29%)
Optic nerve hypoplasia	Kartais (5–29%)
Outward facing eye ball	Kartais (5–29%)
Progressive loss of vision	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Feeding difficulties	Visada
Feeding difficulties in infancy	Visada
Intestinal atresia	Visada
Absent gallbladder	Kartais (5–29%)
Acid reflux	Kartais (5–29%)
Chronic diarrhea	Kartais (5–29%)
Delayed gastric emptying	Kartais (5–29%)
Gastrointestinal dysmotility	Kartais (5–29%)
Gastrostomy tube feeding in infancy	Kartais (5–29%)
Poor swallowing	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Aortic regurgitation	Visada
Abnormality of the common carotid artery	Kartais (5–29%)
Abnormality of the heart	Kartais (5–29%)
An opening in the wall separating the top two chambers of the heart	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Ischemic stroke	Kartais (5–29%)
Mini stroke	Kartais (5–29%)
Patent ductus arteriosus	Kartais (5–29%)
Patent ductus arteriosus after birth at term	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Growth delay	Visada
Faltering weight	Dažnai (30–79%)
Faltering weight in infancy	Dažnai (30–79%)
Prenatal growth deficiency	Dažnai (30–79%)
Proportionate short stature	Dažnai (30–79%)
Short stature	Dažnai (30–79%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Increased urine output	Visada
Abnormality of the genitourinary system	Dažnai (30–79%)
Absent kidney on one side	Kartais (5–29%)
Bilateral renal dysplasia	Kartais (5–29%)
Horseshoe kidney	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Absent thumb	Kartais (5–29%)
Long slender fingers	Kartais (5–29%)
Short foot	Neužfiksuota
Small hand	Neužfiksuota

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Prominent ear	Visada
Hearing impairment	Kartais (5–29%)
Low-set ears	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Curly hair	Visada
Hyperelastic skin	Visada
Soft, doughy skin	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Emphysema	Kartais (5–29%)
Respiratory failure	Kartais (5–29%)
Unilateral lung agenesis	Kartais (5–29%)

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Decreased circulating IgG concentration	Kartais (5–29%)
Decreased secretory IgA concentration	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Feet or buttocks of fetus positioned near opening of uterus	Visada
Fetal distress	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Recurrent infections	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 SON susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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