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Traits
Traits linked to COL1A2
collagen type I alpha 2 chain
The Human Phenotype Ontology links 135 traits to COL1A2, by body system: features seen in people with one of the gene's rare conditions.
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ConectareÎntrebațiSecvențiați-vă genomul↗
Abnormality of the musculoskeletal system
Abnormality of head or neck
| Trait | Cât de frecvent apare |
|---|---|
| Absent bone maturation of skullcap | Întotdeauna |
| Dental crowding | Des (30–79%) |
| Depressed nasal bridge | Des (30–79%) |
| Eye folds | Des (30–79%) |
| Frontal bossing | Des (30–79%) |
| Little lower jaw | Des (30–79%) |
| Receding chin | Des (30–79%) |
| Wide fontanelles | Des (30–79%) |
| Bulbous nose | Uneori (5–29%) |
| Cleft lip | Uneori (5–29%) |
| Cleft palate | Uneori (5–29%) |
| Dentinogenesis imperfecta | Uneori (5–29%) |
| Extra bones within cranial sutures | Uneori (5–29%) |
| High palate | Uneori (5–29%) |
| Midface retrusion | Uneori (5–29%) |
| Thick eyebrow | Uneori (5–29%) |
| Basilar impression | Neînregistrat |
| Beaked nose | Neînregistrat |
| Flattening of the skull base | Neînregistrat |
| Soft skullcap | Neînregistrat |
| Triangular face | Neînregistrat |
| Wider-than-typical soft spot of skull | Neînregistrat |
Abnormality of limbs
| Trait | Cât de frecvent apare |
|---|---|
| Hip dislocation | Întotdeauna |
| Limb undergrowth | Întotdeauna |
| Avascular necrosis of the capital femoral epiphysis | Foarte des (80–99%) |
| Congenital bilateral hip dislocation | Foarte des (80–99%) |
| Abnormal feet structure | Des (30–79%) |
| Absent phalangeal crease | Des (30–79%) |
| Back knee | Des (30–79%) |
| Bunion | Des (30–79%) |
| Dropped arches | Des (30–79%) |
| Knock knees | Des (30–79%) |
| Long fingers | Des (30–79%) |
| Talipes | Des (30–79%) |
| Foot and ankle bend up toward shin of leg | Uneori (5–29%) |
| Gap between 1st and 2nd toes | Uneori (5–29%) |
| Swan neck-like deformities of the fingers | Uneori (5–29%) |
| Club feet | Rar (1–4%) |
| Abnormally indented hip sockets | Neînregistrat |
| Bowed shankbone | Neînregistrat |
| Bowing of thighbone at birth, straightening with time | Neînregistrat |
| Finger joint hyperextensibility | Neînregistrat |
Abnormality of the cardiovascular system
| Trait | Cât de frecvent apare |
|---|---|
| Abnormal heart valve morphology | Foarte des (80–99%) |
| Mitral regurgitation | Foarte des (80–99%) |
| Aortic regurgitation | Des (30–79%) |
| Bulge in wall of root of large artery that carries blood away from heart | Des (30–79%) |
| Tricuspid regurgitation | Des (30–79%) |
| An opening in the wall separating the top two chambers of the heart | Uneori (5–29%) |
| Arterial rupture | Uneori (5–29%) |
| Left ventricular hypertrophy | Uneori (5–29%) |
| Mitral valve prolapse | Uneori (5–29%) |
| Pulmonic regurgitation | Uneori (5–29%) |
| Cardiac failure | Neînregistrat |
| Increased blood pressure in blood vessels of lungs | Neînregistrat |
Abnormality of the integument
| Trait | Cât de frecvent apare |
|---|---|
| Dermal translucency | Întotdeauna |
| Hyperelastic skin | Întotdeauna |
| Thin skin | Foarte des (80–99%) |
| Fragile skin | Des (30–79%) |
| Poor wound healing | Des (30–79%) |
| Soft skin | Des (30–79%) |
| Soft, doughy skin | Des (30–79%) |
| Sunken or indented skin due to damage | Des (30–79%) |
Abnormality of the eye
| Trait | Cât de frecvent apare |
|---|---|
| Blue outer white part of eyeball | Întotdeauna |
| Close sighted | Des (30–79%) |
| Cross-eyed | Des (30–79%) |
| Drooping upper eyelid | Des (30–79%) |
| Wide-set eyes | Des (30–79%) |
| Myopic astigmatism | Uneori (5–29%) |
Abnormality of the nervous system
| Trait | Cât de frecvent apare |
|---|---|
| Delayed ability to walk | Foarte des (80–99%) |
| Motor delay | Foarte des (80–99%) |
| Epilepsy | Uneori (5–29%) |
| Global developmental delay | Uneori (5–29%) |
| IQ between 34 and 49 | Uneori (5–29%) |
| Delayed motor skills | Neînregistrat |
Abnormality of prenatal development or birth
| Trait | Cât de frecvent apare |
|---|---|
| Feet or buttocks of fetus positioned near opening of uterus | Uneori (5–29%) |
| High levels of amniotic fluid | Uneori (5–29%) |
| Less than 10 fetal movements in 12 hours | Uneori (5–29%) |
| Premature rupture of membranes | Uneori (5–29%) |
| Premature birth | Neînregistrat |
Growth abnormality
| Trait | Cât de frecvent apare |
|---|---|
| Short stature | Des (30–79%) |
| Disproportionate tall stature | Uneori (5–29%) |
| Disproportionate short-limb short stature | Neînregistrat |
| Neonatal short-limb short stature | Neînregistrat |
| Small for gestational age | Neînregistrat |
Abnormality of the ear
| Trait | Cât de frecvent apare |
|---|---|
| Severe conductive hearing impairment | Uneori (5–29%) |
| Hearing impairment | Neînregistrat |
| Otosclerosis | Neînregistrat |
Abnormality of the digestive system
| Trait | Cât de frecvent apare |
|---|---|
| Inguinal hernia | Des (30–79%) |
| Femoral hernia | Uneori (5–29%) |
Abnormality of the respiratory system
| Trait | Cât de frecvent apare |
|---|---|
| Breathing difficulty | Uneori (5–29%) |
| Respiratory function loss | Neînregistrat |
Constitutional symptom
| Trait | Cât de frecvent apare |
|---|---|
| Joint pain | Des (30–79%) |
| Fatigue | Uneori (5–29%) |
Abnormality of blood and blood-forming tissues
| Trait | Cât de frecvent apare |
|---|---|
| Bruising susceptibility | Întotdeauna |
Abnormality of the genitourinary system
| Trait | Cât de frecvent apare |
|---|---|
| Bladder diverticulum | Rar (1–4%) |
Laboratory abnormality
| Trait | Cât de frecvent apare |
|---|---|
| Nonimmune hydrops fetalis | Neînregistrat |
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
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to COL1A2 and how often each is seen. Find out more at hpo.jax.org.
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