Požymiai

Su TRIO susiję požymiai

trio Rho guanine nucleotide exchange factor

Žmogaus fenotipo ontologija sieja 106 požymių su TRIO, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

TRIO

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Abnormal dentition	Dažnai (30–79%)
Abnormally small head	Dažnai (30–79%)
Big calvaria	Dažnai (30–79%)
Dental crowding	Dažnai (30–79%)
Facial asymmetry	Dažnai (30–79%)
Frontal bossing	Dažnai (30–79%)
Full lips	Dažnai (30–79%)
Fullness around the eyes	Dažnai (30–79%)
High forehead	Dažnai (30–79%)
Little lower jaw	Dažnai (30–79%)
Monobrow	Dažnai (30–79%)
Small head present at birth	Dažnai (30–79%)
Bulbous nose	Kartais (5–29%)
Depressed nasal bridge	Kartais (5–29%)
Development of small head that was not present at birth	Kartais (5–29%)
Downward slanting of the opening between the eyelids	Kartais (5–29%)
Eye folds	Kartais (5–29%)
Failure of development of more than six teeth	Kartais (5–29%)
Failure of eruption of tooth	Kartais (5–29%)
High palate	Kartais (5–29%)
Highly arched eyebrow	Kartais (5–29%)
Long philtrum	Kartais (5–29%)
Low frontal hairline	Kartais (5–29%)
Low hanging columella	Kartais (5–29%)
Midface retrusion	Kartais (5–29%)
Nasal tip, upturned	Kartais (5–29%)
Prominent nasal bridge	Kartais (5–29%)
Receding chin	Kartais (5–29%)
Short chin	Kartais (5–29%)
Short nose	Kartais (5–29%)
Short philtrum	Kartais (5–29%)
Slanting of the opening between the eyelids	Kartais (5–29%)
Thick eyebrow	Kartais (5–29%)
Thin red part of the upper lip	Kartais (5–29%)
Underdeveloped tissue around nostril	Kartais (5–29%)
Upward slanting of the opening between the eyelids	Kartais (5–29%)
Wide mouth	Kartais (5–29%)
Wide nasal bridge	Kartais (5–29%)

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Delayed ability to walk	Visada
Delayed speech and language development	Visada
Intellectual disability	Visada
Motor delay	Visada
Global developmental delay	Labai dažnai (80–99%)
Intellectual disability, mild	Labai dažnai (80–99%)
Poor speech	Labai dažnai (80–99%)
Aggressive behavior	Dažnai (30–79%)
Attention deficit	Dažnai (30–79%)
Autism spectrum disorder	Dažnai (30–79%)
Behavioral abnormality	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Increased reflexes	Dažnai (30–79%)
Obsessive-compulsive trait	Dažnai (30–79%)
Repetitive movements	Dažnai (30–79%)
Absent speech development	Kartais (5–29%)
Delayed ability to sit	Kartais (5–29%)
Difficulty sleeping	Kartais (5–29%)
Hyperacusis	Kartais (5–29%)
Inability to coordinate movements when walking	Kartais (5–29%)
Intellectual disability, borderline	Kartais (5–29%)
Obsessive compulsive behavior	Kartais (5–29%)
Pain insensitivity	Kartais (5–29%)
Self-injurious behavior	Kartais (5–29%)
Self-mutilation	Kartais (5–29%)
Specific learning disability	Kartais (5–29%)
Tremor	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Tapered finger	Dažnai (30–79%)
Webbed 2nd and 3rd toes	Dažnai (30–79%)
Abnormality of the hand	Kartais (5–29%)
Absent 1st long bone of hand	Kartais (5–29%)
Curvature of little finger	Kartais (5–29%)
Dropped arches	Kartais (5–29%)
Gap between 1st and 2nd toes	Kartais (5–29%)
Partial absence of thumb	Kartais (5–29%)
Short fingers or toes	Kartais (5–29%)
Short palm	Kartais (5–29%)
Single transverse palmar crease	Kartais (5–29%)
Unilateral radial aplasia	Kartais (5–29%)
Winged shoulder blade	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Chronic constipation	Dažnai (30–79%)
Feeding difficulties	Dažnai (30–79%)
Feeding difficulties in infancy	Dažnai (30–79%)
Poor swallowing	Dažnai (30–79%)
Gastrostomy tube feeding in infancy	Kartais (5–29%)
Poor suck	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Congenital drooping upper eyelid	Kartais (5–29%)
Cross-eyed	Kartais (5–29%)
Drooping upper eyelid	Kartais (5–29%)
Lazy eye	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
An opening in the wall separating the top two chambers of the heart	Kartais (5–29%)
Complete atrioventricular canal defect	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Patent ductus arteriosus	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Hunched back	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Funnel chest	Kartais (5–29%)
Low muscle tone	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Large ears	Kartais (5–29%)
Overfolded ears	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Excessive hairiness	Kartais (5–29%)
Frontal upsweep of hair	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Loss of bladder control	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Recurrent infections	Visada

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Fatigue	Dažnai (30–79%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
High blood calcium levels	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 TRIO susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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