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

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Absent bone maturation of skullcap	Alltid
Dental crowding	Ofte (30–79 %)
Depressed nasal bridge	Ofte (30–79 %)
Eye folds	Ofte (30–79 %)
Frontal bossing	Ofte (30–79 %)
Little lower jaw	Ofte (30–79 %)
Receding chin	Ofte (30–79 %)
Wide fontanelles	Ofte (30–79 %)
Bulbous nose	Noen ganger (5–29 %)
Cleft lip	Noen ganger (5–29 %)
Cleft palate	Noen ganger (5–29 %)
Dentinogenesis imperfecta	Noen ganger (5–29 %)
Extra bones within cranial sutures	Noen ganger (5–29 %)
High palate	Noen ganger (5–29 %)
Midface retrusion	Noen ganger (5–29 %)
Thick eyebrow	Noen ganger (5–29 %)
Basilar impression	Ikke registrert
Beaked nose	Ikke registrert
Flattening of the skull base	Ikke registrert
Soft skullcap	Ikke registrert
Triangular face	Ikke registrert
Wider-than-typical soft spot of skull	Ikke registrert

Abnormality of limbs

Trait	Hvor ofte den forekommer
Hip dislocation	Alltid
Limb undergrowth	Alltid
Avascular necrosis of the capital femoral epiphysis	Svært ofte (80–99 %)
Congenital bilateral hip dislocation	Svært ofte (80–99 %)
Abnormal feet structure	Ofte (30–79 %)
Absent phalangeal crease	Ofte (30–79 %)
Back knee	Ofte (30–79 %)
Bunion	Ofte (30–79 %)
Dropped arches	Ofte (30–79 %)
Knock knees	Ofte (30–79 %)
Long fingers	Ofte (30–79 %)
Talipes	Ofte (30–79 %)
Foot and ankle bend up toward shin of leg	Noen ganger (5–29 %)
Gap between 1st and 2nd toes	Noen ganger (5–29 %)
Swan neck-like deformities of the fingers	Noen ganger (5–29 %)
Club feet	Sjelden (1–4%)
Abnormally indented hip sockets	Ikke registrert
Bowed shankbone	Ikke registrert
Bowing of thighbone at birth, straightening with time	Ikke registrert
Finger joint hyperextensibility	Ikke registrert

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Abnormal heart valve morphology	Svært ofte (80–99 %)
Mitral regurgitation	Svært ofte (80–99 %)
Aortic regurgitation	Ofte (30–79 %)
Bulge in wall of root of large artery that carries blood away from heart	Ofte (30–79 %)
Tricuspid regurgitation	Ofte (30–79 %)
An opening in the wall separating the top two chambers of the heart	Noen ganger (5–29 %)
Arterial rupture	Noen ganger (5–29 %)
Left ventricular hypertrophy	Noen ganger (5–29 %)
Mitral valve prolapse	Noen ganger (5–29 %)
Pulmonic regurgitation	Noen ganger (5–29 %)
Cardiac failure	Ikke registrert
Increased blood pressure in blood vessels of lungs	Ikke registrert

Abnormality of the integument

Trait	Hvor ofte den forekommer
Dermal translucency	Alltid
Hyperelastic skin	Alltid
Thin skin	Svært ofte (80–99 %)
Fragile skin	Ofte (30–79 %)
Poor wound healing	Ofte (30–79 %)
Soft skin	Ofte (30–79 %)
Soft, doughy skin	Ofte (30–79 %)
Sunken or indented skin due to damage	Ofte (30–79 %)

Abnormality of the eye

Trait	Hvor ofte den forekommer
Blue outer white part of eyeball	Alltid
Close sighted	Ofte (30–79 %)
Cross-eyed	Ofte (30–79 %)
Drooping upper eyelid	Ofte (30–79 %)
Wide-set eyes	Ofte (30–79 %)
Myopic astigmatism	Noen ganger (5–29 %)

Abnormality of the nervous system

Trait	Hvor ofte den forekommer
Delayed ability to walk	Svært ofte (80–99 %)
Motor delay	Svært ofte (80–99 %)
Epilepsy	Noen ganger (5–29 %)
Global developmental delay	Noen ganger (5–29 %)
IQ between 34 and 49	Noen ganger (5–29 %)
Delayed motor skills	Ikke registrert

Abnormality of prenatal development or birth

Trait	Hvor ofte den forekommer
Feet or buttocks of fetus positioned near opening of uterus	Noen ganger (5–29 %)
High levels of amniotic fluid	Noen ganger (5–29 %)
Less than 10 fetal movements in 12 hours	Noen ganger (5–29 %)
Premature rupture of membranes	Noen ganger (5–29 %)
Premature birth	Ikke registrert

Growth abnormality

Trait	Hvor ofte den forekommer
Short stature	Ofte (30–79 %)
Disproportionate tall stature	Noen ganger (5–29 %)
Disproportionate short-limb short stature	Ikke registrert
Neonatal short-limb short stature	Ikke registrert
Small for gestational age	Ikke registrert

Abnormality of the ear

Trait	Hvor ofte den forekommer
Severe conductive hearing impairment	Noen ganger (5–29 %)
Hearing impairment	Ikke registrert
Otosclerosis	Ikke registrert

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Inguinal hernia	Ofte (30–79 %)
Femoral hernia	Noen ganger (5–29 %)

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Breathing difficulty	Noen ganger (5–29 %)
Respiratory function loss	Ikke registrert

Constitutional symptom

Trait	Hvor ofte den forekommer
Joint pain	Ofte (30–79 %)
Fatigue	Noen ganger (5–29 %)

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
Bruising susceptibility	Alltid

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Bladder diverticulum	Sjelden (1–4%)

Laboratory abnormality

Trait	Hvor ofte den forekommer
Nonimmune hydrops fetalis	Ikke registrert

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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