Tunnused

Geeniga SLC35A2 seotud tunnused

solute carrier family 35 member A2

Inimese fenotüübi ontoloogia seostab geeniga SLC35A2 105 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

SLC35A2

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Absent speech development	Alati
Epileptic encephalopathy	Alati
Epileptic spasm	Alati
Abnormality of the nervous system	Väga sageli (80–99%)
Epilepsy	Väga sageli (80–99%)
Global developmental delay	Väga sageli (80–99%)
Hypsarrhythmia	Väga sageli (80–99%)
Intellectual disability	Väga sageli (80–99%)
Abnormal cerebral white matter morphology	Sageli (30–79%)
Degeneration of cerebellum	Sageli (30–79%)
Degeneration of cerebrum	Sageli (30–79%)
Delayed myelination	Sageli (30–79%)
Elevated brain N-acetyl aspartate level by MRS	Sageli (30–79%)
Inability to walk	Sageli (30–79%)
Infantile spasms	Sageli (30–79%)
Intellectual disability, severe	Sageli (30–79%)
Small cerebellum	Sageli (30–79%)
Underdevelopment of part of brain called corpus callosum	Sageli (30–79%)
Atrophy/Degeneration affecting the brainstem	Mõnikord (5–29%)
Cerebral white matter atrophy	Mõnikord (5–29%)
Delayed CNS myelination	Mõnikord (5–29%)
EEG with focal epileptiform discharges	Mõnikord (5–29%)
Lateral ventricle dilatation	Mõnikord (5–29%)
Short corpus callosum	Mõnikord (5–29%)
Abnormal shape of midbrain	Harva (1–4%)
Cortical dysplasia	Harva (1–4%)
Small hippocampus	Harva (1–4%)

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Big lower jaw	Alati
Coarse facial features	Alati
Open mouth	Alati
Thick eyebrow	Alati
Wide nasal bridge	Alati
Abnormal facial shape	Sageli (30–79%)
Abnormally small head	Sageli (30–79%)
Exaggerated cupid's bow	Sageli (30–79%)
Eye folds	Sageli (30–79%)
Full cheeks	Sageli (30–79%)
Fused teeth	Sageli (30–79%)
High palate	Sageli (30–79%)
Short philtrum	Sageli (30–79%)
Thin dental enamel	Sageli (30–79%)
Deformity of the skull	Mõnikord (5–29%)
Enlarged cisterna magna	Mõnikord (5–29%)
Thickened skin folds of neck	Mõnikord (5–29%)
Dandy-Walker malformation	Harva (1–4%)
Full lips	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the skeletal system	Väga sageli (80–99%)
Decreased muscle tone in infant	Väga sageli (80–99%)
Low muscle tone	Sageli (30–79%)
Low muscle tone in trunk	Sageli (30–79%)
Poor head control	Sageli (30–79%)
Scoliosis	Sageli (30–79%)
Abnormal shape of long bone	Mõnikord (5–29%)
Limb contractures	Mõnikord (5–29%)
Spastic tetraparesis	Mõnikord (5–29%)
Double-Jointed	Harva (1–4%)
Osteopenia	Harva (1–4%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Abnormality of the eye	Sageli (30–79%)
Cerebral visual impairment	Sageli (30–79%)
Anisometropia	Mõnikord (5–29%)
Cross-eyed	Mõnikord (5–29%)
Outward facing eye ball	Mõnikord (5–29%)
Paroxysmal involuntary eye movements	Mõnikord (5–29%)
Involuntary, rapid, rhythmic eye movements	Pole registreeritud
Ocular flutter	Pole registreeritud
Rod-cone dystrophy	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Abnormality of the hand	Sageli (30–79%)
Aplasia/hypoplasia involving bones of the extremities	Sageli (30–79%)
Club feet	Mõnikord (5–29%)
Coxa valga	Mõnikord (5–29%)
Front half of foot turns inward	Mõnikord (5–29%)
Partial hip dislocation	Harva (1–4%)
Permanent flexion of the finger	Harva (1–4%)
Short shinbone	Harva (1–4%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Abnormal glycosylation	Sageli (30–79%)
Abnormal isoelectric focusing of serum transferrin	Sageli (30–79%)
Decreased galactosylation of N-linked protein glycosylation	Sageli (30–79%)
Decreased sialylation of O-linked protein glycosylation	Sageli (30–79%)
High liver enzymes	Sageli (30–79%)
Neonatal hyperbilirubinemia	Sageli (30–79%)
Elevated circulating thyroglobulin concentration	Harva (1–4%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
An opening in the wall separating the top two chambers of the heart	Sageli (30–79%)
High blood pressure	Sageli (30–79%)
Abnormality of the heart	Mõnikord (5–29%)
Tetralogy of Fallot	Harva (1–4%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Ureteropelvic junction obstruction	Sageli (30–79%)
Vesicovaginal fistula	Sageli (30–79%)
Abnormally shaped kidney	Harva (1–4%)
Transient nephrotic syndrome	Harva (1–4%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Feeding difficulties	Sageli (30–79%)
Nasogastric tube feeding	Sageli (30–79%)
Acid reflux	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight in infancy	Sageli (30–79%)
Prenatal growth deficiency	Sageli (30–79%)
Short stature	Sageli (30–79%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Early onset of puberty	Mõnikord (5–29%)
Elevated circulating thyroid-stimulating hormone concentration	Harva (1–4%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the immune system	Sageli (30–79%)
Recurrent infections	Pole registreeritud

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Abnormality of the skin	Sageli (30–79%)
Patchy lightened skin	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Low levels of amniotic fluid	Mõnikord (5–29%)

Abnormality of the breast

Tunnus	Kui sageli seda täheldatakse
Inverted nipples	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Sensorineural hearing impairment	Mõnikord (5–29%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the respiratory system	Sageli (30–79%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga SLC35A2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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