Trăsături

Trăsături asociate cu COL2A1

collagen type II alpha 1 chain

Human Phenotype Ontology asociază 350 trăsături cu COL2A1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

COL2A1

Abnormality of the musculoskeletal system

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

Abnormality of limbs

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

Abnormality of head or neck

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

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Close sighted	Întotdeauna
Increased size of eyes	Întotdeauna
Severe near sightedness	Întotdeauna
Vitreoretinopathy	Întotdeauna
Abnormal vitreous humor morphology	Foarte des (80–99%)
Bulging eye	Foarte des (80–99%)
Clouding of the lens of the eye	Foarte des (80–99%)
Degenerative vitreoretinopathy	Foarte des (80–99%)
Retinal detachment	Foarte des (80–99%)
Abnormality of the eye	Des (30–79%)
Absent/small lens	Des (30–79%)
Lattice retinal degeneration	Des (30–79%)
Retinal hole	Des (30–79%)
Rhegmatogenous retinal detachment	Des (30–79%)
Wide-set eyes	Des (30–79%)
Completely dislocated lens	Uneori (5–29%)
Drooping of both upper eyelids	Uneori (5–29%)
Glaucoma	Uneori (5–29%)
Partially dislocated lens	Uneori (5–29%)
Visual impairment	Uneori (5–29%)
Visual loss	Uneori (5–29%)
Cross-eyed	Rar (1–4%)
High eye pressure	Rar (1–4%)
Asteroid hyalosis	Neînregistrat
Blindness	Neînregistrat
Membranous vitreous appearance	Neînregistrat
Optically empty vitreous	Neînregistrat
Retinal thinning	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Sensorineural hearing impairment	Foarte des (80–99%)
Hearing impairment	Des (30–79%)
Low-set ears	Des (30–79%)
Tympanic membrane hypermobility	Des (30–79%)
Abnormal antitragus morphology	Uneori (5–29%)
Conductive deafness	Uneori (5–29%)
Ears rotated toward back of head	Uneori (5–29%)
Narrow ear canal	Uneori (5–29%)
Prominent ear	Uneori (5–29%)
Small earlobe	Uneori (5–29%)
Underfolded helix	Uneori (5–29%)
Recurrent middle ear infection	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Belly sticks out	Întotdeauna
Abdominal bloating	Foarte des (80–99%)
Acid reflux	Uneori (5–29%)
Gastrostomy tube feeding in infancy	Uneori (5–29%)
Nasogastric tube feeding in infancy	Uneori (5–29%)
Poor suck	Uneori (5–29%)
Inguinal hernia	Neînregistrat
Umbilical hernia	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Waddling gait	Întotdeauna
Delayed motor skills	Des (30–79%)
Short stepped shuffling walk	Des (30–79%)
Intellectual disability	Uneori (5–29%)
Motor delay	Uneori (5–29%)
Pressure on spinal cord	Uneori (5–29%)
Abnormal gait	Neînregistrat
Cervical myelopathy	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Breathing difficulties	Des (30–79%)
Poorly developed lungs	Des (30–79%)
Cardiorespiratory arrest	Uneori (5–29%)
Functional respiratory abnormality	Uneori (5–29%)
Laryngotracheomalacia	Uneori (5–29%)
Abnormality of the respiratory system	Rar (1–4%)
Floppy windpipe	Neînregistrat
Stiff lung or chest wall causing decreased lung volume	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Disproportionate short-limb short stature	Întotdeauna
Short stature	Întotdeauna
Disproportionate short stature	Foarte des (80–99%)
Growth delay	Foarte des (80–99%)
Severe short stature	Des (30–79%)
Disproportionate tall stature	Neînregistrat
Growth abnormality	Neînregistrat
Neonatal short-limb short stature	Neînregistrat

Constitutional symptom

Trăsătură	Cât de frecvent apare
Groin pain	Întotdeauna
Hip pain	Întotdeauna
Joint pain	Întotdeauna
Impairment of activities of daily living	Des (30–79%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Keratan sulfate excretion in urine	Foarte des (80–99%)
Fluid retention	Des (30–79%)
Hydrops fetalis	Des (30–79%)
Increased urinary type 1 collagen N-terminal telopeptide level	Rar (1–4%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Pretibial blistering	Foarte des (80–99%)
Skin erosion	Foarte des (80–99%)
Erythematous plaque	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Iron deficiency anemia	Rar (1–4%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
High levels of amniotic fluid	Des (30–79%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Mitral valve prolapse	Des (30–79%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Abnormal circulating osteocalcin level	Rar (1–4%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu COL2A1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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