Požymiai

Su COL2A1 susiję požymiai

collagen type II alpha 1 chain

Žmogaus fenotipo ontologija sieja 350 požymių su COL2A1, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

COL2A1

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Abnormal cartilage collagen	Visada
Beaking of vertebral bodies	Visada
Coronal cleft vertebrae	Visada
Disease of the joints	Visada
Flattened vertebrae	Visada
Funnel chest	Visada
Generalized osteoporosis	Visada
Hip osteoarthritis	Visada
Irregular vertebral endplates	Visada
Joint stiffness	Visada
Limitation of joint mobility	Visada
Ovoid vertebral bodies	Visada
Pigeon chest	Visada
Short long bone	Visada
Small chest	Visada
Small wings of the pelvic girdle	Visada
Abnormal bone maturation	Labai dažnai (80–99%)
Abnormal bone structure	Labai dažnai (80–99%)
Abnormal shape of joints	Labai dažnai (80–99%)
Abnormal skeletal development	Labai dažnai (80–99%)
Abnormal vertebral morphology	Labai dažnai (80–99%)
Abnormality of the vertebral column	Labai dažnai (80–99%)
Bell-shaped thorax	Labai dažnai (80–99%)
Cartilage destruction	Labai dažnai (80–99%)
Death of bone due to decreased blood supply	Labai dažnai (80–99%)
Degenerative joint disease	Labai dažnai (80–99%)
Delayed bone maturation	Labai dažnai (80–99%)
Delayed maturation of end part of long bone	Labai dažnai (80–99%)
Disproportionate short-trunked short stature	Labai dažnai (80–99%)
Enlarged joints	Labai dažnai (80–99%)
Excessive inward curvature of lower spine	Labai dažnai (80–99%)
Formation of new noncancerous bone on top of existing bone	Labai dažnai (80–99%)
Hypermobility of all joints	Labai dažnai (80–99%)
Hypoplastic pelvis	Labai dažnai (80–99%)
Joint dislocation	Labai dažnai (80–99%)
Kyphoscoliosis	Labai dažnai (80–99%)
Multiple enchondromatosis	Labai dažnai (80–99%)
Muscle degeneration	Labai dažnai (80–99%)
Narrow chest	Labai dažnai (80–99%)
Scoliosis	Labai dažnai (80–99%)
Shorter than typical length between neck and abdomen	Labai dažnai (80–99%)
Spondylometaphyseal dysplasia	Labai dažnai (80–99%)
Vertebral segmentation defect	Labai dažnai (80–99%)
Abnormal bone maturation of vertebra	Dažnai (30–79%)
Abnormal formation of the hip	Dažnai (30–79%)
Abnormal ilium morphology	Dažnai (30–79%)
Abnormal shape of end part of bone	Dažnai (30–79%)
Abnormal shape of the end part of the vertebra bone	Dažnai (30–79%)
Abnormality of the vertebral endplates	Dažnai (30–79%)
Absent vertebral body mineralization	Dažnai (30–79%)
Anisospondyly	Dažnai (30–79%)
Arthritis	Dažnai (30–79%)
Cervical instability	Dažnai (30–79%)
Cervical spine instability	Dažnai (30–79%)
Delayed maturation of pubic bone	Dažnai (30–79%)
Delayed vertebral ossification	Dažnai (30–79%)
Double-Jointed	Dažnai (30–79%)
Flat end part of bone	Dažnai (30–79%)
Hunched back	Dažnai (30–79%)
Hypoplasia of the odontoid process	Dažnai (30–79%)
Hypoplastic pubic bone	Dažnai (30–79%)
Irregular end part of long bone	Dažnai (30–79%)
Large end part of bone	Dažnai (30–79%)
Limb pain	Dažnai (30–79%)
Limited hip movement	Dažnai (30–79%)
Morbus Scheuermann	Dažnai (30–79%)
Narrow greater sciatic notch	Dažnai (30–79%)
Osteochondroma	Dažnai (30–79%)
Osteoporosis	Dažnai (30–79%)
Short pelvis bones	Dažnai (30–79%)
Short ribs	Dažnai (30–79%)
Small end part of bone	Dažnai (30–79%)
Small shoulder blade	Dažnai (30–79%)
Thoracolumbar kyphosis	Dažnai (30–79%)
Unossified sacrum	Dažnai (30–79%)
Wafer-thin platyspondyly	Dažnai (30–79%)
Wedge-shaped vertebrae	Dažnai (30–79%)
Abnormal deposits of calcium in the brain	Kartais (5–29%)
Anterior vertebral fusion	Kartais (5–29%)
Atlantoaxial instability	Kartais (5–29%)
Back pain	Kartais (5–29%)
Barrel-shaped chest	Kartais (5–29%)
Biconcave vertebral bodies	Kartais (5–29%)
Biconvex vertebral bodies	Kartais (5–29%)
Displacement of one backbone compared to another	Kartais (5–29%)
Fused neck	Kartais (5–29%)
Hip joint pain	Kartais (5–29%)
Intervertebral space narrowing	Kartais (5–29%)
Irregular iliac crest	Kartais (5–29%)
Knee pain	Kartais (5–29%)
Low solidness and mass of the bones	Kartais (5–29%)
Reduced spine movement	Kartais (5–29%)
Restricted large joint movement	Kartais (5–29%)
Underdeveloped vertebrae	Kartais (5–29%)
Vertebral fusion	Kartais (5–29%)
C1-C2 vertebral abnormality	Retai (1–4 %)
Hypoplastic iliac wing	Retai (1–4 %)
Increased susceptibility to fractures	Retai (1–4 %)
Abnormal development of end part of bone	Neužfiksuota
Anterior rib cupping	Neužfiksuota
Broad long bones	Neužfiksuota
C1-C2 subluxation	Neužfiksuota
Crescent-shaped iliac bone	Neužfiksuota
Disc-like vertebral bodies	Neužfiksuota
Flattened, squared-off end part of tubular bones	Neužfiksuota
Flexed joint that cannot be straightened	Neužfiksuota
Generalized decreased muscle tone	Neužfiksuota
Horizontal ribs	Neužfiksuota
Hyperconvex vertebral body endplates	Neužfiksuota
Hypoplastic ischia	Neužfiksuota
Lethal skeletal dysplasia	Neužfiksuota
Low muscle tone	Neužfiksuota
Lumbar kyphoscoliosis	Neužfiksuota
Narrow iliac wing	Neužfiksuota
Neonatal short-trunk short stature	Neužfiksuota
Prominent swayback	Neužfiksuota
Schmorl's node	Neužfiksuota
Severe platyspondyly	Neužfiksuota
Short greater sciatic notch	Neužfiksuota
Splayed end part of bone	Neužfiksuota
Spondyloepimetaphyseal dysplasia	Neužfiksuota
Spondyloepiphyseal dysplasia	Neužfiksuota
Thin ribs	Neužfiksuota
Thoracic kyphosis	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Acetabular spurs	Visada
Avascular necrosis of the capital femoral epiphysis	Visada
Bowed shankbone	Visada
Delayed tibial epiphyseal ossification	Visada
Disproportionately short upper portion of limb	Visada
Dumbbell-shaped thighbone	Visada
Flat acetabular roof	Visada
Flat end part of innermost thighbone	Visada
Heberden node	Visada
Irregular wide portion of a long bone	Visada
Knee osteoarthritis	Visada
Limb undergrowth	Visada
Limited elbow extension	Visada
Outward bow-leggedness	Visada
Rhizomelic arm shortening	Visada
Rhizomelic leg shortening	Visada
Severe limb shortening	Visada
Short fingers or toes	Visada
Short long bone of foot	Visada
Short outermost bone of ring finger	Visada
Short outermost bone of the index finger	Visada
Short outermost bone of the middle finger	Visada
Short outermost little finger bone	Visada
Short toe	Visada
Shortened long bone of hand	Visada
Shortening of all middle phalanges of the fingers	Visada
Abnormal neck or head of thigh bone	Labai dažnai (80–99%)
Abnormal wrist bones	Labai dažnai (80–99%)
Abnormality of femoral head development	Labai dažnai (80–99%)
Abnormality of the wide portion of a long bone	Labai dažnai (80–99%)
Aplasia/hypoplasia involving bones of the extremities	Labai dažnai (80–99%)
Bowing of the long bones	Labai dažnai (80–99%)
Corner fracture of metaphysis	Labai dažnai (80–99%)
Coxa vara	Labai dažnai (80–99%)
Flared wide portion of long bone	Labai dažnai (80–99%)
Flexion contracture of finger	Labai dažnai (80–99%)
Left and right leg differ in length or width	Labai dažnai (80–99%)
Metaphyseal cupping	Labai dažnai (80–99%)
Metaphyseal dysplasia	Labai dažnai (80–99%)
Short foot	Labai dažnai (80–99%)
Short outermost finger bone	Labai dažnai (80–99%)
Short palm	Labai dažnai (80–99%)
Small innermost thighbone end part	Labai dažnai (80–99%)
Smaller or shorter than typical limbs	Labai dažnai (80–99%)
Abnormal ulnar metaphysis morphology	Dažnai (30–79%)
Abnormality of the calf bone	Dažnai (30–79%)
Abnormality of the end part of the innermost thighbone	Dažnai (30–79%)
Abnormality of the hip joint	Dažnai (30–79%)
Abnormality of the knee	Dažnai (30–79%)
Absent/small extremities	Dažnai (30–79%)
Bowing of outer large bone of the forearm	Dažnai (30–79%)
Broad wide portion of long bone	Dažnai (30–79%)
Coxa valga	Dažnai (30–79%)
Curvature of digit	Dažnai (30–79%)
Delayed proximal femoral epiphyseal ossification	Dažnai (30–79%)
Dumbbell-shaped long bone	Dažnai (30–79%)
Enlarged wide portion of a long bone	Dažnai (30–79%)
Flat head of thigh bone	Dažnai (30–79%)
Internal tibial torsion	Dažnai (30–79%)
Knock knees	Dažnai (30–79%)
Metaphyseal enchondromatosis	Dažnai (30–79%)
Short lower limbs	Dažnai (30–79%)
Type E brachydactyly	Dažnai (30–79%)
Underdeveloped inner large forearm bone	Dažnai (30–79%)
Upper limb undergrowth	Dažnai (30–79%)
Abnormal feet structure	Kartais (5–29%)
Abnormal shape of long bones of hand	Kartais (5–29%)
Abnormality of the wrist	Kartais (5–29%)
Broad big toe	Kartais (5–29%)
Club feet	Kartais (5–29%)
Delayed bone maturation of the knee cap	Kartais (5–29%)
Delayed maturation of wrist bone	Kartais (5–29%)
Irregular acetabular roof	Kartais (5–29%)
Limited elbow movement	Kartais (5–29%)
Short neck of thighbone	Kartais (5–29%)
Short thighbone	Kartais (5–29%)
Talipes	Kartais (5–29%)
Abnormal epiphysis morphology of the phalanges of the hand	Neužfiksuota
Abnormality of thighbone end part	Neužfiksuota
Absent styloid process of ulna	Neužfiksuota
Bowed long bone in upper arm	Neužfiksuota
Broad palm	Neužfiksuota
Broad thumb	Neužfiksuota
Club-shaped innermost end of thighbone	Neužfiksuota
Cone-shaped end part of finger bones	Neužfiksuota
Delayed distal femoral epiphyseal ossification	Neužfiksuota
Delayed heel bone maturation	Neužfiksuota
Dropped arches	Neužfiksuota
Flared femoral metaphysis	Neužfiksuota
Hip contracture	Neužfiksuota
Hip dislocation	Neužfiksuota
Hypoplasia of proximal radius	Neužfiksuota
Irregular thighbone end part	Neužfiksuota
Limitation of knee mobility	Neužfiksuota
Long slender fingers	Neužfiksuota
Metaphyseal dappling	Neužfiksuota
Narrow neck of thigh bone	Neužfiksuota
Short finger bones	Neužfiksuota
Short thumb	Neužfiksuota
Short tubular bones of the hand	Neužfiksuota
Shortening of all innermost bones of the fingers	Neužfiksuota
Small carpal bones	Neužfiksuota
Tibial metaphyseal irregularity	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Broad head shape	Visada
Cleft palate	Visada
Depressed nasal bridge	Visada
Frontal bossing	Visada
Long philtrum	Visada
Short neck	Visada
Small retruded chin	Visada
Zygomatic flattening	Visada
Abnormal dentition	Labai dažnai (80–99%)
Decreased size of maxilla	Labai dažnai (80–99%)
Round face	Labai dažnai (80–99%)
Short nose	Labai dažnai (80–99%)
Coarse facial features	Dažnai (30–79%)
Flat face	Dažnai (30–79%)
Increased head circumference	Dažnai (30–79%)
Little lower jaw	Dažnai (30–79%)
Midface retrusion	Dažnai (30–79%)
Pierre-Robin sequence	Dažnai (30–79%)
Prominent forehead	Dažnai (30–79%)
Retraction of the tongue	Dažnai (30–79%)
Stiff neck	Dažnai (30–79%)
Bifid uvula	Kartais (5–29%)
Cleft soft palate	Kartais (5–29%)
Decrease in jaw mobility	Kartais (5–29%)
Dental cavities	Kartais (5–29%)
Facial asymmetry	Kartais (5–29%)
High palate	Kartais (5–29%)
Pointed chin	Kartais (5–29%)
Skin tag in front of the ear	Kartais (5–29%)
Submucous cleft hard palate	Kartais (5–29%)
Big calvaria	Retai (1–4 %)
Boxer-like facial appearance	Neužfiksuota
Cystic hygroma	Neužfiksuota
Decreased cranial base ossification	Neužfiksuota
Narrow mouth	Neužfiksuota
Nasal tip, upturned	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Close sighted	Visada
Increased size of eyes	Visada
Severe near sightedness	Visada
Vitreoretinopathy	Visada
Abnormal vitreous humor morphology	Labai dažnai (80–99%)
Bulging eye	Labai dažnai (80–99%)
Clouding of the lens of the eye	Labai dažnai (80–99%)
Degenerative vitreoretinopathy	Labai dažnai (80–99%)
Retinal detachment	Labai dažnai (80–99%)
Abnormality of the eye	Dažnai (30–79%)
Absent/small lens	Dažnai (30–79%)
Lattice retinal degeneration	Dažnai (30–79%)
Retinal hole	Dažnai (30–79%)
Rhegmatogenous retinal detachment	Dažnai (30–79%)
Wide-set eyes	Dažnai (30–79%)
Completely dislocated lens	Kartais (5–29%)
Drooping of both upper eyelids	Kartais (5–29%)
Glaucoma	Kartais (5–29%)
Partially dislocated lens	Kartais (5–29%)
Visual impairment	Kartais (5–29%)
Visual loss	Kartais (5–29%)
Cross-eyed	Retai (1–4 %)
High eye pressure	Retai (1–4 %)
Asteroid hyalosis	Neužfiksuota
Blindness	Neužfiksuota
Membranous vitreous appearance	Neužfiksuota
Optically empty vitreous	Neužfiksuota
Retinal thinning	Neužfiksuota

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Sensorineural hearing impairment	Labai dažnai (80–99%)
Hearing impairment	Dažnai (30–79%)
Low-set ears	Dažnai (30–79%)
Tympanic membrane hypermobility	Dažnai (30–79%)
Abnormal antitragus morphology	Kartais (5–29%)
Conductive deafness	Kartais (5–29%)
Ears rotated toward back of head	Kartais (5–29%)
Narrow ear canal	Kartais (5–29%)
Prominent ear	Kartais (5–29%)
Small earlobe	Kartais (5–29%)
Underfolded helix	Kartais (5–29%)
Recurrent middle ear infection	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Belly sticks out	Visada
Abdominal bloating	Labai dažnai (80–99%)
Acid reflux	Kartais (5–29%)
Gastrostomy tube feeding in infancy	Kartais (5–29%)
Nasogastric tube feeding in infancy	Kartais (5–29%)
Poor suck	Kartais (5–29%)
Inguinal hernia	Neužfiksuota
Umbilical hernia	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Waddling gait	Visada
Delayed motor skills	Dažnai (30–79%)
Short stepped shuffling walk	Dažnai (30–79%)
Intellectual disability	Kartais (5–29%)
Motor delay	Kartais (5–29%)
Pressure on spinal cord	Kartais (5–29%)
Abnormal gait	Neužfiksuota
Cervical myelopathy	Neužfiksuota

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Breathing difficulties	Dažnai (30–79%)
Poorly developed lungs	Dažnai (30–79%)
Cardiorespiratory arrest	Kartais (5–29%)
Functional respiratory abnormality	Kartais (5–29%)
Laryngotracheomalacia	Kartais (5–29%)
Abnormality of the respiratory system	Retai (1–4 %)
Floppy windpipe	Neužfiksuota
Stiff lung or chest wall causing decreased lung volume	Neužfiksuota

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Disproportionate short-limb short stature	Visada
Short stature	Visada
Disproportionate short stature	Labai dažnai (80–99%)
Growth delay	Labai dažnai (80–99%)
Severe short stature	Dažnai (30–79%)
Disproportionate tall stature	Neužfiksuota
Growth abnormality	Neužfiksuota
Neonatal short-limb short stature	Neužfiksuota

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Groin pain	Visada
Hip pain	Visada
Joint pain	Visada
Impairment of activities of daily living	Dažnai (30–79%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Keratan sulfate excretion in urine	Labai dažnai (80–99%)
Fluid retention	Dažnai (30–79%)
Hydrops fetalis	Dažnai (30–79%)
Increased urinary type 1 collagen N-terminal telopeptide level	Retai (1–4 %)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Pretibial blistering	Labai dažnai (80–99%)
Skin erosion	Labai dažnai (80–99%)
Erythematous plaque	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Iron deficiency anemia	Retai (1–4 %)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
High levels of amniotic fluid	Dažnai (30–79%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Mitral valve prolapse	Dažnai (30–79%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Abnormal circulating osteocalcin level	Retai (1–4 %)

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

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su COL2A1 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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