Traits

Traits linked to COL11A2

collagen type XI alpha 2 chain

The Human Phenotype Ontology links 99 traits to COL11A2, 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
Cupped ribs	Visada
Excessive inward curvature of lower spine	Visada
Flattened vertebrae	Visada
Hypoplastic ischia	Visada
Hypoplastic pubic bone	Visada
Premature osteoarthritis	Visada
Short long bone	Visada
Short ribs	Visada
Small chest	Visada
Small wings of the pelvic girdle	Visada
Abnormal shape of joints	Labai dažnai (80–99%)
Abnormal shape of pelvis bone	Labai dažnai (80–99%)
Abnormal vertebral body morphology	Labai dažnai (80–99%)
Abnormal vertebral morphology	Labai dažnai (80–99%)
Abnormality of the ribs	Labai dažnai (80–99%)
Broad ribs	Labai dažnai (80–99%)
Narrow chest	Labai dažnai (80–99%)
Abnormal development of end part of bone	Dažnai (30–79%)
Abnormal iliac wing morphology	Dažnai (30–79%)
Abnormal shape of long bone	Dažnai (30–79%)
Degenerative joint disease	Dažnai (30–79%)
Small shoulder blade	Dažnai (30–79%)
Abnormal bone maturation of vertebra	Kartais (5–29%)
Coronal cleft vertebrae	Kartais (5–29%)
Enlarged joints	Kartais (5–29%)
Formation of new noncancerous bone on top of existing bone	Kartais (5–29%)
Funnel chest	Kartais (5–29%)
Limitation of joint mobility	Kartais (5–29%)
Pigeon chest	Kartais (5–29%)
Beaking of vertebral bodies	Neužfiksuota
Flexed joint that cannot be straightened	Neužfiksuota
Large end part of bone	Neužfiksuota

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Broad wide portion of long bone	Visada
Shortened 5th long bone of hand	Visada
Abnormal shape of shaft of long bone	Labai dažnai (80–99%)
Abnormality of the wide portion of a long bone	Labai dažnai (80–99%)
Short fingers or toes	Labai dažnai (80–99%)
Dumbbell-shaped thighbone	Dažnai (30–79%)
Limb undergrowth	Dažnai (30–79%)
Metaphyseal cupping	Dažnai (30–79%)
Abnormal shape of long bones of hand	Kartais (5–29%)
Bowed calf bone	Kartais (5–29%)
Bowed shankbone	Kartais (5–29%)
Flared femoral metaphysis	Kartais (5–29%)
Gap between 1st and 2nd toes	Kartais (5–29%)
Permanent flexion of the finger	Kartais (5–29%)
Short finger bones	Kartais (5–29%)
Shortened long bone of hand	Kartais (5–29%)
Smaller or shorter than typical limbs	Kartais (5–29%)
Absent/small end part of innermost thighbone	Neužfiksuota
Flared wide portion of long bone	Neužfiksuota
Large ankle bones	Neužfiksuota
Prominent hinge joints	Neužfiksuota
Short palm	Neužfiksuota

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Depressed nasal bridge	Visada
Frontal bossing	Visada
Midface retrusion	Visada
Nasal tip, upturned	Visada
Prominent brow	Visada
Short nose	Visada
Zygomatic flattening	Visada
Cleft palate	Labai dažnai (80–99%)
Long philtrum	Labai dažnai (80–99%)
Round face	Labai dažnai (80–99%)
Short neck	Labai dažnai (80–99%)
Wider-than-typical soft spot of skull	Labai dažnai (80–99%)
Bifid uvula	Dažnai (30–79%)
Downward slanting of the opening between the eyelids	Dažnai (30–79%)
Flat face	Dažnai (30–79%)
Little lower jaw	Dažnai (30–79%)
Narrow mouth	Dažnai (30–79%)
Retraction of the tongue	Dažnai (30–79%)
Asymmetry of the posterior head	Kartais (5–29%)
Bulbous nose	Neužfiksuota
Pierre-Robin sequence	Neužfiksuota

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Bulging eye	Visada
Wide-set eyes	Kartais (5–29%)
Cross-eyed	Retai (1–4 %)
Farsightedness	Retai (1–4 %)
Mild myopia	Retai (1–4 %)
Clouding of the lens of the eye	Neužfiksuota
Degenerative vitreoretinopathy	Neužfiksuota
Retinal detachment	Neužfiksuota
Severe near sightedness	Neužfiksuota

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Sensorineural hearing impairment	Visada
Hearing abnormality	Dažnai (30–79%)
Low-set ears	Dažnai (30–79%)
Ears rotated toward back of head	Kartais (5–29%)
Mixed hearing impairment	Neužfiksuota

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Belly sticks out	Visada
Omphalocele	Kartais (5–29%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Short stature	Visada
Disproportionate short stature	Labai dažnai (80–99%)

Abnormality of prenatal development or birth

Trait	Kaip dažnai pasireiškia
High levels of amniotic fluid	Kartais (5–29%)

Abnormality of the immune system

Trait	Kaip dažnai pasireiškia
Recurrent pneumonia	Neužfiksuota

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Small fingernail	Dažnai (30–79%)

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Respiratory function loss	Dažnai (30–79%)

Constitutional symptom

Trait	Kaip dažnai pasireiškia
Joint pain	Visada

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 COL11A2 and how often each is seen. Find out more at hpo.jax.org.

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