Trăsături

Trăsături asociate cu VAC14

VAC14 component of PIKFYVE complex

Human Phenotype Ontology asociază 106 trăsături cu VAC14, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

VAC14

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormal occipital bone morphology	Des (30–79%)
Abnormal parietal bone morphology	Des (30–79%)
Abnormality of tooth part	Des (30–79%)
Broad secondary alveolar ridge	Des (30–79%)
Decreased bone formation of skull	Des (30–79%)
Decreased volume of lip	Des (30–79%)
Drooling	Des (30–79%)
Early loss of baby teeth	Des (30–79%)
Excessive salivation	Des (30–79%)
High forehead	Des (30–79%)
High, narrow palate	Des (30–79%)
Large cranial suture	Des (30–79%)
Little lower jaw	Des (30–79%)
Long, narrow head	Des (30–79%)
Nasal tip, upturned	Des (30–79%)
Redundant neck skin	Des (30–79%)
Short chin	Des (30–79%)
Short philtrum	Des (30–79%)
Short upper lip	Des (30–79%)
Small head present at birth	Des (30–79%)
Sparse eyebrow	Des (30–79%)
Sparse eyelashes	Des (30–79%)
Sparse scalp hair	Des (30–79%)
Upward slanting of the opening between the eyelids	Des (30–79%)
Gingival recession	Uneori (5–29%)
Increased nuchal translucency	Uneori (5–29%)
Narrow nasal base	Uneori (5–29%)
Retraction of the tongue	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Absent outermost bone of big toe	Foarte des (80–99%)
Absent outermost hand bone	Foarte des (80–99%)
Short innermost big toe bone	Foarte des (80–99%)
Abnormal rhythmic movements of ankle	Des (30–79%)
Abnormalities of the fingers	Des (30–79%)
Absent 1st long bone of hand	Des (30–79%)
Absent thumb	Des (30–79%)
Absent/small 1st long bone of foot	Des (30–79%)
Front half of foot turns inward	Des (30–79%)
Rocker bottom foot	Des (30–79%)
Short finger	Des (30–79%)
Short middle bone of finger	Des (30–79%)
Short toe	Des (30–79%)
Shortening of all outermost bone of the toes	Des (30–79%)
Single transverse palmar crease	Des (30–79%)
Tapered finger	Des (30–79%)
Webbed fingers or toes	Des (30–79%)
Flared wide portion of long bone	Uneori (5–29%)
Hip dislocation	Uneori (5–29%)
Slender long bones with narrow shaft	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Dystonia	Întotdeauna
Loss of ability to walk	Întotdeauna
Unsteady walk	Întotdeauna
Agenesis of corpus callosum	Des (30–79%)
Arrhinencephaly	Des (30–79%)
Fewer and broader ridges in brain	Des (30–79%)
Global developmental delay	Des (30–79%)
High stepping	Des (30–79%)
Loss of brain cells	Des (30–79%)
Underdeveloped frontal lobe	Des (30–79%)
Small cerebellum	Uneori (5–29%)
Too much cerebrospinal fluid in the brain	Uneori (5–29%)
Abnormal craniofacial muscle tone	Neînregistrat
Delayed speech and language development	Neînregistrat
Increased reflexes	Neînregistrat
Loss of developmental milestones	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Disease of the heart muscle	Des (30–79%)
Enlarged heart	Des (30–79%)
Hole in heart wall separating two lower heart chambers	Des (30–79%)
Increased blood pressure in blood vessels of lungs	Des (30–79%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
High blood pressure	Uneori (5–29%)
Narrowing of kidney artery	Uneori (5–29%)
Renovascular hypertension	Uneori (5–29%)
Tetralogy of Fallot	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Spasticity and rigidity of muscles	Întotdeauna
Abnormal shape of pelvis bone	Des (30–79%)
Absent bone maturation in sternum	Des (30–79%)
Absent/small collarbone	Des (30–79%)
Excessive inward curvature of lower spine	Des (30–79%)
Generalized low muscle tone in neonate	Des (30–79%)
Low muscle tone	Des (30–79%)
Absent/small shoulder blade	Uneori (5–29%)
Short ribs	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormally small eyeball on both sides	Des (30–79%)
Bulging eye	Des (30–79%)
Clouding of the lens of the eye	Des (30–79%)
Hardening of skin and connective tissue	Des (30–79%)
Wide-set eyes	Des (30–79%)
Abnormally small eyeball	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Hypospadias	Des (30–79%)
Short penis	Des (30–79%)
Enlarged clitoris	Uneori (5–29%)
Small labia majora	Uneori (5–29%)
Undescended testes	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Abnormally shaped ears	Des (30–79%)
Low-set ears	Des (30–79%)
Hearing impairment	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Growth delay as children	Des (30–79%)
Severe faltering weight	Des (30–79%)
Short stature	Des (30–79%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Pyloric stenosis	Uneori (5–29%)
Poor swallowing	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Elevated blood creatine phosphokinase	Des (30–79%)
Hydrops fetalis	Uneori (5–29%)

Abnormality of prenatal development or birth

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

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Absent/small nipples	Des (30–79%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Absent/small nails	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 VAC14 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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