Traits

Traits linked to EXT1

exostosin glycosyltransferase 1

The Human Phenotype Ontology links 97 traits to EXT1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Cone-shaped end part of finger bones	Labai dažnai (80–99%)
Abnormal shape of bones of the lower limbs	Dažnai (30–79%)
Abnormality of the knee	Dažnai (30–79%)
Abnormality of the thighbone	Dažnai (30–79%)
Deformed forearm bones	Dažnai (30–79%)
Abnormal morphology of ulna	Kartais (5–29%)
Abnormal shape of hand	Kartais (5–29%)
Abnormality of the calf bone	Kartais (5–29%)
Abnormality of the shankbone	Kartais (5–29%)
Avascular necrosis of the capital femoral epiphysis	Kartais (5–29%)
Bilateral single transverse palmar creases	Kartais (5–29%)
Bowing of the long bones	Kartais (5–29%)
Broad wide portion of long bone	Kartais (5–29%)
Coxa valga	Kartais (5–29%)
Deformed radius	Kartais (5–29%)
Femoroacetabular impingement	Kartais (5–29%)
Forearm undergrowth	Kartais (5–29%)
Knock knees	Kartais (5–29%)
Left and right leg differ in length or width	Kartais (5–29%)
Limb undergrowth	Kartais (5–29%)
Limitation of knee mobility	Kartais (5–29%)
Short fingers or toes	Kartais (5–29%)
Short lower limbs	Kartais (5–29%)
Shortened long bone of hand	Kartais (5–29%)
Talipes	Kartais (5–29%)
Abnormal ankle bones	Retai (1–4 %)
Abnormal wrist bones	Retai (1–4 %)
Talipes valgus	Retai (1–4 %)
Coxa vara	Neužfiksuota
Madelung-like forearm deformities	Neužfiksuota

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Multiple exostoses	Visada
Osteochondroma	Visada
Bone pain	Labai dažnai (80–99%)
Delayed bone maturation	Labai dažnai (80–99%)
Formation of new noncancerous bone on top of existing bone	Labai dažnai (80–99%)
Multiple long-bone exostoses	Labai dažnai (80–99%)
Abnormal bone structure	Dažnai (30–79%)
Abnormal shape of cartilage	Dažnai (30–79%)
Double-Jointed	Dažnai (30–79%)
Functional motor deficit	Dažnai (30–79%)
Joint dislocation	Dažnai (30–79%)
Limitation of joint mobility	Dažnai (30–79%)
Abnormal formation of the hip	Kartais (5–29%)
Arthritis	Kartais (5–29%)
Bursitis	Kartais (5–29%)
Chondrosarcoma	Kartais (5–29%)
Limited hip movement	Kartais (5–29%)
Low muscle tone	Kartais (5–29%)
Short long bone	Kartais (5–29%)
Abnormal shape of pelvis bone	Retai (1–4 %)
Bone fracture	Retai (1–4 %)
Neuropathic spinal arthropathy	Retai (1–4 %)
Rib exostoses	Retai (1–4 %)
Scapular exostoses	Retai (1–4 %)
Pelvic bone exostoses	Neužfiksuota
Protuberances at ends of long bones	Neužfiksuota

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Bulbous nose	Labai dažnai (80–99%)
Deep philtrum	Labai dažnai (80–99%)
Long philtrum	Labai dažnai (80–99%)
Sparse scalp hair	Labai dažnai (80–99%)
Thin red part of the upper lip	Labai dažnai (80–99%)
Aplasia/Hypoplasia of the mandible	Dažnai (30–79%)
Thick eyebrow	Dažnai (30–79%)
Abnormal dentition	Kartais (5–29%)
Abnormality of the palate	Kartais (5–29%)
Abnormally small head	Kartais (5–29%)
Extra teeth	Kartais (5–29%)
Thick nasal alae	Kartais (5–29%)
Wide nasal bridge	Kartais (5–29%)

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Intellectual disability	Dažnai (30–79%)
Somatic sensory dysfunction	Kartais (5–29%)
Ventriculomegaly	Kartais (5–29%)
Cervical myelopathy	Retai (1–4 %)
Fluid-filled cyst in spinal cord	Retai (1–4 %)
Peripheral nerve compression	Retai (1–4 %)
Pressure on spinal cord	Retai (1–4 %)
Tethered cord	Retai (1–4 %)

Constitutional symptom

Trait	Kaip dažnai pasireiškia
Pain	Dažnai (30–79%)
Muscle ache	Kartais (5–29%)
Tendon pain	Kartais (5–29%)
Chest pain	Retai (1–4 %)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Ears rotated toward back of head	Labai dažnai (80–99%)
Prominent ear	Labai dažnai (80–99%)
Conductive deafness	Kartais (5–29%)

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Frequent urinary tract infections	Kartais (5–29%)
Vesicoureteral reflux	Kartais (5–29%)
Urinary retention	Retai (1–4 %)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Short stature	Labai dažnai (80–99%)
Growth delay	Kartais (5–29%)
Uneven or disproportionate growth of one body part compared to another	Kartais (5–29%)

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Abnormal cardiovascular system morphology	Kartais (5–29%)
Pseudoaneurysm	Retai (1–4 %)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Intestinal obstruction	Retai (1–4 %)
Poor swallowing	Retai (1–4 %)

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Collapsed lung	Retai (1–4 %)
Hemothorax	Retai (1–4 %)

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Loose redundant skin	Dažnai (30–79%)

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

The Human Phenotype Ontology, release 2026-09-01: the traits linked to EXT1 and how often each is seen. Find out more at hpo.jax.org.

Vienas testas. Atsakymai visam gyvenimui.

Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites

Įsigyti savo Genome Test