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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.

Abnormality of the musculoskeletal system

TraitKui sageli seda täheldatakse
Bell-shaped thoraxAlati
Crumpled long bonesAlati
Double-JointedAlati
Multiple fractures present at birthAlati
Multiple rib fracturesAlati
Small chestAlati
Thin ribsAlati
Abnormal formation of the hipVäga sageli (80–99%)
Hypermobility of all jointsVäga sageli (80–99%)
Multiple joint dislocationVäga sageli (80–99%)
Recurrent fracturesVäga sageli (80–99%)
Funnel chestSageli (30–79%)
Generalized decreased muscle toneSageli (30–79%)
HerniaSageli (30–79%)
Increased mobility of outermost hinge jointSageli (30–79%)
Increased susceptibility to fracturesSageli (30–79%)
Joint dislocationSageli (30–79%)
Low muscle toneSageli (30–79%)
Popcorn calcificationSageli (30–79%)
ScoliosisSageli (30–79%)
KyphoscoliosisMõnikord (5–29%)
Multiple shoulder dislocationMõnikord (5–29%)
OsteopeniaMõnikord (5–29%)
Tendon ruptureMõnikord (5–29%)
Tendon thickeningMõnikord (5–29%)
Thoracolumbar scoliosisMõnikord (5–29%)
Abnormal shape of pelvic girdle bonePole registreeritud
Biconcave flattened vertebraePole registreeritud
Biconcave vertebral bodiesPole registreeritud
Bowing of limbs due to multiple fracturesPole registreeritud
Broad long bonesPole registreeritud
Flattened vertebraePole registreeritud
Hunched backPole registreeritud
Joint subluxationPole registreeritud
Low solidness and mass of the bonesPole registreeritud
OsteoporosisPole registreeritud
Prominent swaybackPole registreeritud
Severe generalized osteoporosisPole registreeritud
Slender long bonePole registreeritud

Abnormality of head or neck

TraitKui sageli seda täheldatakse
Absent bone maturation of skullcapAlati
Dental crowdingSageli (30–79%)
Depressed nasal bridgeSageli (30–79%)
Eye foldsSageli (30–79%)
Frontal bossingSageli (30–79%)
Little lower jawSageli (30–79%)
Receding chinSageli (30–79%)
Wide fontanellesSageli (30–79%)
Bulbous noseMõnikord (5–29%)
Cleft lipMõnikord (5–29%)
Cleft palateMõnikord (5–29%)
Dentinogenesis imperfectaMõnikord (5–29%)
Extra bones within cranial suturesMõnikord (5–29%)
High palateMõnikord (5–29%)
Midface retrusionMõnikord (5–29%)
Thick eyebrowMõnikord (5–29%)
Basilar impressionPole registreeritud
Beaked nosePole registreeritud
Flattening of the skull basePole registreeritud
Soft skullcapPole registreeritud
Triangular facePole registreeritud
Wider-than-typical soft spot of skullPole registreeritud

Abnormality of limbs

TraitKui sageli seda täheldatakse
Hip dislocationAlati
Limb undergrowthAlati
Avascular necrosis of the capital femoral epiphysisVäga sageli (80–99%)
Congenital bilateral hip dislocationVäga sageli (80–99%)
Abnormal feet structureSageli (30–79%)
Absent phalangeal creaseSageli (30–79%)
Back kneeSageli (30–79%)
BunionSageli (30–79%)
Dropped archesSageli (30–79%)
Knock kneesSageli (30–79%)
Long fingersSageli (30–79%)
TalipesSageli (30–79%)
Foot and ankle bend up toward shin of legMõnikord (5–29%)
Gap between 1st and 2nd toesMõnikord (5–29%)
Swan neck-like deformities of the fingersMõnikord (5–29%)
Club feetHarva (1–4%)
Abnormally indented hip socketsPole registreeritud
Bowed shankbonePole registreeritud
Bowing of thighbone at birth, straightening with timePole registreeritud
Finger joint hyperextensibilityPole registreeritud

Abnormality of the cardiovascular system

TraitKui sageli seda täheldatakse
Abnormal heart valve morphologyVäga sageli (80–99%)
Mitral regurgitationVäga sageli (80–99%)
Aortic regurgitationSageli (30–79%)
Bulge in wall of root of large artery that carries blood away from heartSageli (30–79%)
Tricuspid regurgitationSageli (30–79%)
An opening in the wall separating the top two chambers of the heartMõnikord (5–29%)
Arterial ruptureMõnikord (5–29%)
Left ventricular hypertrophyMõnikord (5–29%)
Mitral valve prolapseMõnikord (5–29%)
Pulmonic regurgitationMõnikord (5–29%)
Cardiac failurePole registreeritud
Increased blood pressure in blood vessels of lungsPole registreeritud

Abnormality of the integument

TraitKui sageli seda täheldatakse
Dermal translucencyAlati
Hyperelastic skinAlati
Thin skinVäga sageli (80–99%)
Fragile skinSageli (30–79%)
Poor wound healingSageli (30–79%)
Soft skinSageli (30–79%)
Soft, doughy skinSageli (30–79%)
Sunken or indented skin due to damageSageli (30–79%)

Abnormality of the eye

TraitKui sageli seda täheldatakse
Blue outer white part of eyeballAlati
Close sightedSageli (30–79%)
Cross-eyedSageli (30–79%)
Drooping upper eyelidSageli (30–79%)
Wide-set eyesSageli (30–79%)
Myopic astigmatismMõnikord (5–29%)

Abnormality of the nervous system

TraitKui sageli seda täheldatakse
Delayed ability to walkVäga sageli (80–99%)
Motor delayVäga sageli (80–99%)
EpilepsyMõnikord (5–29%)
Global developmental delayMõnikord (5–29%)
IQ between 34 and 49Mõnikord (5–29%)
Delayed motor skillsPole registreeritud

Abnormality of prenatal development or birth

TraitKui sageli seda täheldatakse
Feet or buttocks of fetus positioned near opening of uterusMõnikord (5–29%)
High levels of amniotic fluidMõnikord (5–29%)
Less than 10 fetal movements in 12 hoursMõnikord (5–29%)
Premature rupture of membranesMõnikord (5–29%)
Premature birthPole registreeritud

Growth abnormality

TraitKui sageli seda täheldatakse
Short statureSageli (30–79%)
Disproportionate tall statureMõnikord (5–29%)
Disproportionate short-limb short staturePole registreeritud
Neonatal short-limb short staturePole registreeritud
Small for gestational agePole registreeritud

Abnormality of the ear

TraitKui sageli seda täheldatakse
Severe conductive hearing impairmentMõnikord (5–29%)
Hearing impairmentPole registreeritud
OtosclerosisPole registreeritud

Abnormality of the digestive system

TraitKui sageli seda täheldatakse
Inguinal herniaSageli (30–79%)
Femoral herniaMõnikord (5–29%)

Abnormality of the respiratory system

TraitKui sageli seda täheldatakse
Breathing difficultyMõnikord (5–29%)
Respiratory function lossPole registreeritud

Constitutional symptom

TraitKui sageli seda täheldatakse
Joint painSageli (30–79%)
FatigueMõnikord (5–29%)

Abnormality of blood and blood-forming tissues

TraitKui sageli seda täheldatakse
Bruising susceptibilityAlati

Abnormality of the genitourinary system

TraitKui sageli seda täheldatakse
Bladder diverticulumHarva (1–4%)

Laboratory abnormality

TraitKui sageli seda täheldatakse
Nonimmune hydrops fetalisPole registreeritud

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

  • 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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