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Logi sisseKüsiSekveneeri oma genoom↗
Tunnused
Geeniga VAC14 seotud tunnused
VAC14 component of PIKFYVE complex
Inimese fenotüübi ontoloogia seostab geeniga VAC14 106 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of head or neck
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Absent outermost bone of big toe | Väga sageli (80–99%) |
| Absent outermost hand bone | Väga sageli (80–99%) |
| Short innermost big toe bone | Väga sageli (80–99%) |
| Abnormal rhythmic movements of ankle | Sageli (30–79%) |
| Abnormalities of the fingers | Sageli (30–79%) |
| Absent 1st long bone of hand | Sageli (30–79%) |
| Absent thumb | Sageli (30–79%) |
| Absent/small 1st long bone of foot | Sageli (30–79%) |
| Front half of foot turns inward | Sageli (30–79%) |
| Rocker bottom foot | Sageli (30–79%) |
| Short finger | Sageli (30–79%) |
| Short middle bone of finger | Sageli (30–79%) |
| Short toe | Sageli (30–79%) |
| Shortening of all outermost bone of the toes | Sageli (30–79%) |
| Single transverse palmar crease | Sageli (30–79%) |
| Tapered finger | Sageli (30–79%) |
| Webbed fingers or toes | Sageli (30–79%) |
| Flared wide portion of long bone | Mõnikord (5–29%) |
| Hip dislocation | Mõnikord (5–29%) |
| Slender long bones with narrow shaft | Mõnikord (5–29%) |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Dystonia | Alati |
| Loss of ability to walk | Alati |
| Unsteady walk | Alati |
| Agenesis of corpus callosum | Sageli (30–79%) |
| Arrhinencephaly | Sageli (30–79%) |
| Fewer and broader ridges in brain | Sageli (30–79%) |
| Global developmental delay | Sageli (30–79%) |
| High stepping | Sageli (30–79%) |
| Loss of brain cells | Sageli (30–79%) |
| Underdeveloped frontal lobe | Sageli (30–79%) |
| Small cerebellum | Mõnikord (5–29%) |
| Too much cerebrospinal fluid in the brain | Mõnikord (5–29%) |
| Abnormal craniofacial muscle tone | Pole registreeritud |
| Delayed speech and language development | Pole registreeritud |
| Increased reflexes | Pole registreeritud |
| Loss of developmental milestones | Pole registreeritud |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Disease of the heart muscle | Sageli (30–79%) |
| Enlarged heart | Sageli (30–79%) |
| Hole in heart wall separating two lower heart chambers | Sageli (30–79%) |
| Increased blood pressure in blood vessels of lungs | Sageli (30–79%) |
| An opening in the wall separating the top two chambers of the heart | Mõnikord (5–29%) |
| High blood pressure | Mõnikord (5–29%) |
| Narrowing of kidney artery | Mõnikord (5–29%) |
| Renovascular hypertension | Mõnikord (5–29%) |
| Tetralogy of Fallot | Harva (1–4%) |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Spasticity and rigidity of muscles | Alati |
| Abnormal shape of pelvis bone | Sageli (30–79%) |
| Absent bone maturation in sternum | Sageli (30–79%) |
| Absent/small collarbone | Sageli (30–79%) |
| Excessive inward curvature of lower spine | Sageli (30–79%) |
| Generalized low muscle tone in neonate | Sageli (30–79%) |
| Low muscle tone | Sageli (30–79%) |
| Absent/small shoulder blade | Mõnikord (5–29%) |
| Short ribs | Mõnikord (5–29%) |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormally small eyeball on both sides | Sageli (30–79%) |
| Bulging eye | Sageli (30–79%) |
| Clouding of the lens of the eye | Sageli (30–79%) |
| Hardening of skin and connective tissue | Sageli (30–79%) |
| Wide-set eyes | Sageli (30–79%) |
| Abnormally small eyeball | Mõnikord (5–29%) |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Hypospadias | Sageli (30–79%) |
| Short penis | Sageli (30–79%) |
| Enlarged clitoris | Mõnikord (5–29%) |
| Small labia majora | Mõnikord (5–29%) |
| Undescended testes | Mõnikord (5–29%) |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormally shaped ears | Sageli (30–79%) |
| Low-set ears | Sageli (30–79%) |
| Hearing impairment | Mõnikord (5–29%) |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Growth delay as children | Sageli (30–79%) |
| Severe faltering weight | Sageli (30–79%) |
| Short stature | Sageli (30–79%) |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Pyloric stenosis | Mõnikord (5–29%) |
| Poor swallowing | Pole registreeritud |
Laboratory abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Elevated blood creatine phosphokinase | Sageli (30–79%) |
| Hydrops fetalis | Mõnikord (5–29%) |
Abnormality of prenatal development or birth
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| High levels of amniotic fluid | Mõnikord (5–29%) |
Abnormality of the breast
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Absent/small nipples | Sageli (30–79%) |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Absent/small nails | 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 VAC14 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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