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.

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Bell-shaped thorax	Visada
Crumpled long bones	Visada
Double-Jointed	Visada
Multiple fractures present at birth	Visada
Multiple rib fractures	Visada
Small chest	Visada
Thin ribs	Visada
Abnormal formation of the hip	Labai dažnai (80–99%)
Hypermobility of all joints	Labai dažnai (80–99%)
Multiple joint dislocation	Labai dažnai (80–99%)
Recurrent fractures	Labai dažnai (80–99%)
Funnel chest	Dažnai (30–79%)
Generalized decreased muscle tone	Dažnai (30–79%)
Hernia	Dažnai (30–79%)
Increased mobility of outermost hinge joint	Dažnai (30–79%)
Increased susceptibility to fractures	Dažnai (30–79%)
Joint dislocation	Dažnai (30–79%)
Low muscle tone	Dažnai (30–79%)
Popcorn calcification	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Kyphoscoliosis	Kartais (5–29%)
Multiple shoulder dislocation	Kartais (5–29%)
Osteopenia	Kartais (5–29%)
Tendon rupture	Kartais (5–29%)
Tendon thickening	Kartais (5–29%)
Thoracolumbar scoliosis	Kartais (5–29%)
Abnormal shape of pelvic girdle bone	Neužfiksuota
Biconcave flattened vertebrae	Neužfiksuota
Biconcave vertebral bodies	Neužfiksuota
Bowing of limbs due to multiple fractures	Neužfiksuota
Broad long bones	Neužfiksuota
Flattened vertebrae	Neužfiksuota
Hunched back	Neužfiksuota
Joint subluxation	Neužfiksuota
Low solidness and mass of the bones	Neužfiksuota
Osteoporosis	Neužfiksuota
Prominent swayback	Neužfiksuota
Severe generalized osteoporosis	Neužfiksuota
Slender long bone	Neužfiksuota

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Absent bone maturation of skullcap	Visada
Dental crowding	Dažnai (30–79%)
Depressed nasal bridge	Dažnai (30–79%)
Eye folds	Dažnai (30–79%)
Frontal bossing	Dažnai (30–79%)
Little lower jaw	Dažnai (30–79%)
Receding chin	Dažnai (30–79%)
Wide fontanelles	Dažnai (30–79%)
Bulbous nose	Kartais (5–29%)
Cleft lip	Kartais (5–29%)
Cleft palate	Kartais (5–29%)
Dentinogenesis imperfecta	Kartais (5–29%)
Extra bones within cranial sutures	Kartais (5–29%)
High palate	Kartais (5–29%)
Midface retrusion	Kartais (5–29%)
Thick eyebrow	Kartais (5–29%)
Basilar impression	Neužfiksuota
Beaked nose	Neužfiksuota
Flattening of the skull base	Neužfiksuota
Soft skullcap	Neužfiksuota
Triangular face	Neužfiksuota
Wider-than-typical soft spot of skull	Neužfiksuota

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Hip dislocation	Visada
Limb undergrowth	Visada
Avascular necrosis of the capital femoral epiphysis	Labai dažnai (80–99%)
Congenital bilateral hip dislocation	Labai dažnai (80–99%)
Abnormal feet structure	Dažnai (30–79%)
Absent phalangeal crease	Dažnai (30–79%)
Back knee	Dažnai (30–79%)
Bunion	Dažnai (30–79%)
Dropped arches	Dažnai (30–79%)
Knock knees	Dažnai (30–79%)
Long fingers	Dažnai (30–79%)
Talipes	Dažnai (30–79%)
Foot and ankle bend up toward shin of leg	Kartais (5–29%)
Gap between 1st and 2nd toes	Kartais (5–29%)
Swan neck-like deformities of the fingers	Kartais (5–29%)
Club feet	Retai (1–4 %)
Abnormally indented hip sockets	Neužfiksuota
Bowed shankbone	Neužfiksuota
Bowing of thighbone at birth, straightening with time	Neužfiksuota
Finger joint hyperextensibility	Neužfiksuota

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Abnormal heart valve morphology	Labai dažnai (80–99%)
Mitral regurgitation	Labai dažnai (80–99%)
Aortic regurgitation	Dažnai (30–79%)
Bulge in wall of root of large artery that carries blood away from heart	Dažnai (30–79%)
Tricuspid regurgitation	Dažnai (30–79%)
An opening in the wall separating the top two chambers of the heart	Kartais (5–29%)
Arterial rupture	Kartais (5–29%)
Left ventricular hypertrophy	Kartais (5–29%)
Mitral valve prolapse	Kartais (5–29%)
Pulmonic regurgitation	Kartais (5–29%)
Cardiac failure	Neužfiksuota
Increased blood pressure in blood vessels of lungs	Neužfiksuota

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Dermal translucency	Visada
Hyperelastic skin	Visada
Thin skin	Labai dažnai (80–99%)
Fragile skin	Dažnai (30–79%)
Poor wound healing	Dažnai (30–79%)
Soft skin	Dažnai (30–79%)
Soft, doughy skin	Dažnai (30–79%)
Sunken or indented skin due to damage	Dažnai (30–79%)

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Blue outer white part of eyeball	Visada
Close sighted	Dažnai (30–79%)
Cross-eyed	Dažnai (30–79%)
Drooping upper eyelid	Dažnai (30–79%)
Wide-set eyes	Dažnai (30–79%)
Myopic astigmatism	Kartais (5–29%)

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Delayed ability to walk	Labai dažnai (80–99%)
Motor delay	Labai dažnai (80–99%)
Epilepsy	Kartais (5–29%)
Global developmental delay	Kartais (5–29%)
IQ between 34 and 49	Kartais (5–29%)
Delayed motor skills	Neužfiksuota

Abnormality of prenatal development or birth

Trait	Kaip dažnai pasireiškia
Feet or buttocks of fetus positioned near opening of uterus	Kartais (5–29%)
High levels of amniotic fluid	Kartais (5–29%)
Less than 10 fetal movements in 12 hours	Kartais (5–29%)
Premature rupture of membranes	Kartais (5–29%)
Premature birth	Neužfiksuota

Growth abnormality

Trait	Kaip dažnai pasireiškia
Short stature	Dažnai (30–79%)
Disproportionate tall stature	Kartais (5–29%)
Disproportionate short-limb short stature	Neužfiksuota
Neonatal short-limb short stature	Neužfiksuota
Small for gestational age	Neužfiksuota

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Severe conductive hearing impairment	Kartais (5–29%)
Hearing impairment	Neužfiksuota
Otosclerosis	Neužfiksuota

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Inguinal hernia	Dažnai (30–79%)
Femoral hernia	Kartais (5–29%)

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Breathing difficulty	Kartais (5–29%)
Respiratory function loss	Neužfiksuota

Constitutional symptom

Trait	Kaip dažnai pasireiškia
Joint pain	Dažnai (30–79%)
Fatigue	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Bruising susceptibility	Visada

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Bladder diverticulum	Retai (1–4 %)

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Nonimmune hydrops fetalis	Neužfiksuota

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 COL1A2 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