Trăsături

Trăsături asociate cu SLC35A2

solute carrier family 35 member A2

Human Phenotype Ontology asociază 105 trăsături cu SLC35A2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

SLC35A2

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Absent speech development	Întotdeauna
Epileptic encephalopathy	Întotdeauna
Epileptic spasm	Întotdeauna
Abnormality of the nervous system	Foarte des (80–99%)
Epilepsy	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Hypsarrhythmia	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Abnormal cerebral white matter morphology	Des (30–79%)
Degeneration of cerebellum	Des (30–79%)
Degeneration of cerebrum	Des (30–79%)
Delayed myelination	Des (30–79%)
Elevated brain N-acetyl aspartate level by MRS	Des (30–79%)
Inability to walk	Des (30–79%)
Infantile spasms	Des (30–79%)
Intellectual disability, severe	Des (30–79%)
Small cerebellum	Des (30–79%)
Underdevelopment of part of brain called corpus callosum	Des (30–79%)
Atrophy/Degeneration affecting the brainstem	Uneori (5–29%)
Cerebral white matter atrophy	Uneori (5–29%)
Delayed CNS myelination	Uneori (5–29%)
EEG with focal epileptiform discharges	Uneori (5–29%)
Lateral ventricle dilatation	Uneori (5–29%)
Short corpus callosum	Uneori (5–29%)
Abnormal shape of midbrain	Rar (1–4%)
Cortical dysplasia	Rar (1–4%)
Small hippocampus	Rar (1–4%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Big lower jaw	Întotdeauna
Coarse facial features	Întotdeauna
Open mouth	Întotdeauna
Thick eyebrow	Întotdeauna
Wide nasal bridge	Întotdeauna
Abnormal facial shape	Des (30–79%)
Abnormally small head	Des (30–79%)
Exaggerated cupid's bow	Des (30–79%)
Eye folds	Des (30–79%)
Full cheeks	Des (30–79%)
Fused teeth	Des (30–79%)
High palate	Des (30–79%)
Short philtrum	Des (30–79%)
Thin dental enamel	Des (30–79%)
Deformity of the skull	Uneori (5–29%)
Enlarged cisterna magna	Uneori (5–29%)
Thickened skin folds of neck	Uneori (5–29%)
Dandy-Walker malformation	Rar (1–4%)
Full lips	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Abnormality of the skeletal system	Foarte des (80–99%)
Decreased muscle tone in infant	Foarte des (80–99%)
Low muscle tone	Des (30–79%)
Low muscle tone in trunk	Des (30–79%)
Poor head control	Des (30–79%)
Scoliosis	Des (30–79%)
Abnormal shape of long bone	Uneori (5–29%)
Limb contractures	Uneori (5–29%)
Spastic tetraparesis	Uneori (5–29%)
Double-Jointed	Rar (1–4%)
Osteopenia	Rar (1–4%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormality of the eye	Des (30–79%)
Cerebral visual impairment	Des (30–79%)
Anisometropia	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Outward facing eye ball	Uneori (5–29%)
Paroxysmal involuntary eye movements	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Neînregistrat
Ocular flutter	Neînregistrat
Rod-cone dystrophy	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Abnormality of the hand	Des (30–79%)
Aplasia/hypoplasia involving bones of the extremities	Des (30–79%)
Club feet	Uneori (5–29%)
Coxa valga	Uneori (5–29%)
Front half of foot turns inward	Uneori (5–29%)
Partial hip dislocation	Rar (1–4%)
Permanent flexion of the finger	Rar (1–4%)
Short shinbone	Rar (1–4%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Abnormal glycosylation	Des (30–79%)
Abnormal isoelectric focusing of serum transferrin	Des (30–79%)
Decreased galactosylation of N-linked protein glycosylation	Des (30–79%)
Decreased sialylation of O-linked protein glycosylation	Des (30–79%)
High liver enzymes	Des (30–79%)
Neonatal hyperbilirubinemia	Des (30–79%)
Elevated circulating thyroglobulin concentration	Rar (1–4%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
An opening in the wall separating the top two chambers of the heart	Des (30–79%)
High blood pressure	Des (30–79%)
Abnormality of the heart	Uneori (5–29%)
Tetralogy of Fallot	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Ureteropelvic junction obstruction	Des (30–79%)
Vesicovaginal fistula	Des (30–79%)
Abnormally shaped kidney	Rar (1–4%)
Transient nephrotic syndrome	Rar (1–4%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties	Des (30–79%)
Nasogastric tube feeding	Des (30–79%)
Acid reflux	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight in infancy	Des (30–79%)
Prenatal growth deficiency	Des (30–79%)
Short stature	Des (30–79%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Early onset of puberty	Uneori (5–29%)
Elevated circulating thyroid-stimulating hormone concentration	Rar (1–4%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Abnormality of the immune system	Des (30–79%)
Recurrent infections	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Abnormality of the skin	Des (30–79%)
Patchy lightened skin	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Low levels of amniotic fluid	Uneori (5–29%)

Abnormality of the breast

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

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Sensorineural hearing impairment	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Abnormality of the respiratory system	Des (30–79%)

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 SLC35A2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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