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	Kui sageli seda täheldatakse
Bell-shaped thorax	Alati
Cupped ribs	Alati
Excessive inward curvature of lower spine	Alati
Flattened vertebrae	Alati
Hypoplastic ischia	Alati
Hypoplastic pubic bone	Alati
Premature osteoarthritis	Alati
Short long bone	Alati
Short ribs	Alati
Small chest	Alati
Small wings of the pelvic girdle	Alati
Abnormal shape of joints	Väga sageli (80–99%)
Abnormal shape of pelvis bone	Väga sageli (80–99%)
Abnormal vertebral body morphology	Väga sageli (80–99%)
Abnormal vertebral morphology	Väga sageli (80–99%)
Abnormality of the ribs	Väga sageli (80–99%)
Broad ribs	Väga sageli (80–99%)
Narrow chest	Väga sageli (80–99%)
Abnormal development of end part of bone	Sageli (30–79%)
Abnormal iliac wing morphology	Sageli (30–79%)
Abnormal shape of long bone	Sageli (30–79%)
Degenerative joint disease	Sageli (30–79%)
Small shoulder blade	Sageli (30–79%)
Abnormal bone maturation of vertebra	Mõnikord (5–29%)
Coronal cleft vertebrae	Mõnikord (5–29%)
Enlarged joints	Mõnikord (5–29%)
Formation of new noncancerous bone on top of existing bone	Mõnikord (5–29%)
Funnel chest	Mõnikord (5–29%)
Limitation of joint mobility	Mõnikord (5–29%)
Pigeon chest	Mõnikord (5–29%)
Beaking of vertebral bodies	Pole registreeritud
Flexed joint that cannot be straightened	Pole registreeritud
Large end part of bone	Pole registreeritud

Abnormality of limbs

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

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Depressed nasal bridge	Alati
Frontal bossing	Alati
Midface retrusion	Alati
Nasal tip, upturned	Alati
Prominent brow	Alati
Short nose	Alati
Zygomatic flattening	Alati
Cleft palate	Väga sageli (80–99%)
Long philtrum	Väga sageli (80–99%)
Round face	Väga sageli (80–99%)
Short neck	Väga sageli (80–99%)
Wider-than-typical soft spot of skull	Väga sageli (80–99%)
Bifid uvula	Sageli (30–79%)
Downward slanting of the opening between the eyelids	Sageli (30–79%)
Flat face	Sageli (30–79%)
Little lower jaw	Sageli (30–79%)
Narrow mouth	Sageli (30–79%)
Retraction of the tongue	Sageli (30–79%)
Asymmetry of the posterior head	Mõnikord (5–29%)
Bulbous nose	Pole registreeritud
Pierre-Robin sequence	Pole registreeritud

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Bulging eye	Alati
Wide-set eyes	Mõnikord (5–29%)
Cross-eyed	Harva (1–4%)
Farsightedness	Harva (1–4%)
Mild myopia	Harva (1–4%)
Clouding of the lens of the eye	Pole registreeritud
Degenerative vitreoretinopathy	Pole registreeritud
Retinal detachment	Pole registreeritud
Severe near sightedness	Pole registreeritud

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Sensorineural hearing impairment	Alati
Hearing abnormality	Sageli (30–79%)
Low-set ears	Sageli (30–79%)
Ears rotated toward back of head	Mõnikord (5–29%)
Mixed hearing impairment	Pole registreeritud

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Belly sticks out	Alati
Omphalocele	Mõnikord (5–29%)

Growth abnormality

Trait	Kui sageli seda täheldatakse
Short stature	Alati
Disproportionate short stature	Väga sageli (80–99%)

Abnormality of prenatal development or birth

Trait	Kui sageli seda täheldatakse
High levels of amniotic fluid	Mõnikord (5–29%)

Abnormality of the immune system

Trait	Kui sageli seda täheldatakse
Recurrent pneumonia	Pole registreeritud

Abnormality of the integument

Trait	Kui sageli seda täheldatakse
Small fingernail	Sageli (30–79%)

Abnormality of the respiratory system

Trait	Kui sageli seda täheldatakse
Respiratory function loss	Sageli (30–79%)

Constitutional symptom

Trait	Kui sageli seda täheldatakse
Joint pain	Alati

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

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