Trăsături

Trăsături asociate cu EXT2

exostosin glycosyltransferase 2

Human Phenotype Ontology asociază 136 trăsături cu EXT2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

EXT2

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Abnormal shape of bones of the lower limbs	Des (30–79%)
Abnormality of the knee	Des (30–79%)
Abnormality of the thighbone	Des (30–79%)
Deformed forearm bones	Des (30–79%)
Overlapping toe	Des (30–79%)
Abnormal morphology of ulna	Uneori (5–29%)
Abnormal shape of hand	Uneori (5–29%)
Abnormality of the calf bone	Uneori (5–29%)
Abnormality of the shankbone	Uneori (5–29%)
Bowing of the long bones	Uneori (5–29%)
Broad wide portion of long bone	Uneori (5–29%)
Coxa valga	Uneori (5–29%)
Deformed radius	Uneori (5–29%)
Femoroacetabular impingement	Uneori (5–29%)
Forearm undergrowth	Uneori (5–29%)
Knock knees	Uneori (5–29%)
Left and right leg differ in length or width	Uneori (5–29%)
Limb undergrowth	Uneori (5–29%)
Limitation of knee mobility	Uneori (5–29%)
Short lower limbs	Uneori (5–29%)
Shortened long bone of hand	Uneori (5–29%)
Abnormal ankle bones	Rar (1–4%)
Abnormal wrist bones	Rar (1–4%)
Talipes valgus	Rar (1–4%)
Coxa vara	Neînregistrat
Curvature of little finger	Neînregistrat
Dropped arches	Neînregistrat
Madelung-like forearm deformities	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Întotdeauna
Multiple exostoses	Întotdeauna
Osteochondroma	Întotdeauna
Scoliosis	Întotdeauna
Formation of new noncancerous bone on top of existing bone	Foarte des (80–99%)
Low solidness and mass of the bones	Foarte des (80–99%)
Abnormal bone structure	Des (30–79%)
Abnormal shape of cartilage	Des (30–79%)
Functional motor deficit	Des (30–79%)
Limitation of joint mobility	Des (30–79%)
Arthritis	Uneori (5–29%)
Bursitis	Uneori (5–29%)
Chondrosarcoma	Uneori (5–29%)
Limited hip movement	Uneori (5–29%)
Short long bone	Uneori (5–29%)
Abnormal shape of pelvis bone	Rar (1–4%)
Bone fracture	Rar (1–4%)
Neuropathic spinal arthropathy	Rar (1–4%)
Rib exostoses	Rar (1–4%)
Scapular exostoses	Rar (1–4%)
Pelvic bone exostoses	Neînregistrat
Protuberances at ends of long bones	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Epilepsy	Întotdeauna
Global developmental delay	Întotdeauna
IQ between 34 and 49	Întotdeauna
Delayed speech and language development	Foarte des (80–99%)
Autism	Des (30–79%)
Intellectual disability, mild	Des (30–79%)
Unsteady walk	Des (30–79%)
Wide based walk	Des (30–79%)
Intellectual disability	Uneori (5–29%)
Intellectual disability, severe	Uneori (5–29%)
Loss of ability to walk	Uneori (5–29%)
Pauses in breathing while sleeping	Uneori (5–29%)
Somatic sensory dysfunction	Uneori (5–29%)
Cervical myelopathy	Rar (1–4%)
Fluid-filled cyst in spinal cord	Rar (1–4%)
Peripheral nerve compression	Rar (1–4%)
Pressure on spinal cord	Rar (1–4%)
Tethered cord	Rar (1–4%)
Autism spectrum disorder	Neînregistrat
Motor delay	Neînregistrat
Poor speech	Neînregistrat
Repetitive movements	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Big calvaria	Întotdeauna
Broad head shape	Foarte des (80–99%)
Broad nasal tip	Foarte des (80–99%)
Decreased bone formation of skull	Foarte des (80–99%)
Depressed nasal tip	Foarte des (80–99%)
Eye folds	Foarte des (80–99%)
Little lower jaw	Foarte des (80–99%)
Prominent nasal bridge	Foarte des (80–99%)
Underdeveloped tissue around nostril	Foarte des (80–99%)
Bulbous nose	Des (30–79%)
Downturned corners of mouth	Des (30–79%)
Holes in parietal bones	Des (30–79%)
Long philtrum	Des (30–79%)
Short philtrum	Des (30–79%)
Abnormally small head	Uneori (5–29%)
Flat forehead	Uneori (5–29%)
High forehead	Uneori (5–29%)
Prominent forehead	Uneori (5–29%)
Coarse facial features	Neînregistrat
Hypoplastic philtrum	Neînregistrat
Skin tag in front of the ear	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Acid reflux	Des (30–79%)
Constipation	Des (30–79%)
Intestinal malrotation	Des (30–79%)
Nausea	Des (30–79%)
Stomach hernia	Uneori (5–29%)
Stool holding	Uneori (5–29%)
Volvulus	Uneori (5–29%)
Intestinal obstruction	Rar (1–4%)
Poor swallowing	Rar (1–4%)
Feeding difficulties	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal cardiovascular system morphology	Des (30–79%)
Hole in heart wall separating two lower heart chambers	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%)
Patent ductus arteriosus	Rar (1–4%)
Pseudoaneurysm	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Undescended testes	Întotdeauna
Abnormality of the kidney	Des (30–79%)
Short penis	Des (30–79%)
Nephroblastoma	Uneori (5–29%)
Urinary retention	Rar (1–4%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Pain	Des (30–79%)
Muscle ache	Uneori (5–29%)
Tendon pain	Uneori (5–29%)
Chest pain	Rar (1–4%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Delayed puberty	Uneori (5–29%)
Early onset of puberty	Uneori (5–29%)
Underactive thyroid	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Cross-eyed	Des (30–79%)
Involuntary, rapid, rhythmic eye movements	Des (30–79%)
Wide-set eyes	Des (30–79%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Abnormality of the skin	Des (30–79%)
Atypical nail growth	Neînregistrat
Sparse hair	Neînregistrat

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Bleeding in brain	Des (30–79%)
Low number of red blood cells or hemoglobin	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Collapsed lung	Rar (1–4%)
Hemothorax	Rar (1–4%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Short stature	Des (30–79%)
Uneven or disproportionate growth of one body part compared to another	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 ear

Trăsătură	Cât de frecvent apare
Abnormality of the outer ear	Des (30–79%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
High urine protein levels	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 EXT2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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