Kjennetegn

Kjennetegn knyttet til COL2A1

collagen type II alpha 1 chain

Human Phenotype Ontology knytter 350 kjennetegn til COL2A1, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

COL2A1

Abnormality of the musculoskeletal system

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

Abnormality of limbs

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

Abnormality of head or neck

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

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Close sighted	Alltid
Increased size of eyes	Alltid
Severe near sightedness	Alltid
Vitreoretinopathy	Alltid
Abnormal vitreous humor morphology	Svært ofte (80–99 %)
Bulging eye	Svært ofte (80–99 %)
Clouding of the lens of the eye	Svært ofte (80–99 %)
Degenerative vitreoretinopathy	Svært ofte (80–99 %)
Retinal detachment	Svært ofte (80–99 %)
Abnormality of the eye	Ofte (30–79 %)
Absent/small lens	Ofte (30–79 %)
Lattice retinal degeneration	Ofte (30–79 %)
Retinal hole	Ofte (30–79 %)
Rhegmatogenous retinal detachment	Ofte (30–79 %)
Wide-set eyes	Ofte (30–79 %)
Completely dislocated lens	Noen ganger (5–29 %)
Drooping of both upper eyelids	Noen ganger (5–29 %)
Glaucoma	Noen ganger (5–29 %)
Partially dislocated lens	Noen ganger (5–29 %)
Visual impairment	Noen ganger (5–29 %)
Visual loss	Noen ganger (5–29 %)
Cross-eyed	Sjelden (1–4%)
High eye pressure	Sjelden (1–4%)
Asteroid hyalosis	Ikke registrert
Blindness	Ikke registrert
Membranous vitreous appearance	Ikke registrert
Optically empty vitreous	Ikke registrert
Retinal thinning	Ikke registrert

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Sensorineural hearing impairment	Svært ofte (80–99 %)
Hearing impairment	Ofte (30–79 %)
Low-set ears	Ofte (30–79 %)
Tympanic membrane hypermobility	Ofte (30–79 %)
Abnormal antitragus morphology	Noen ganger (5–29 %)
Conductive deafness	Noen ganger (5–29 %)
Ears rotated toward back of head	Noen ganger (5–29 %)
Narrow ear canal	Noen ganger (5–29 %)
Prominent ear	Noen ganger (5–29 %)
Small earlobe	Noen ganger (5–29 %)
Underfolded helix	Noen ganger (5–29 %)
Recurrent middle ear infection	Ikke registrert

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Belly sticks out	Alltid
Abdominal bloating	Svært ofte (80–99 %)
Acid reflux	Noen ganger (5–29 %)
Gastrostomy tube feeding in infancy	Noen ganger (5–29 %)
Nasogastric tube feeding in infancy	Noen ganger (5–29 %)
Poor suck	Noen ganger (5–29 %)
Inguinal hernia	Ikke registrert
Umbilical hernia	Ikke registrert

Abnormality of the nervous system

Kjennetegn	Hvor ofte den forekommer
Waddling gait	Alltid
Delayed motor skills	Ofte (30–79 %)
Short stepped shuffling walk	Ofte (30–79 %)
Intellectual disability	Noen ganger (5–29 %)
Motor delay	Noen ganger (5–29 %)
Pressure on spinal cord	Noen ganger (5–29 %)
Abnormal gait	Ikke registrert
Cervical myelopathy	Ikke registrert

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Breathing difficulties	Ofte (30–79 %)
Poorly developed lungs	Ofte (30–79 %)
Cardiorespiratory arrest	Noen ganger (5–29 %)
Functional respiratory abnormality	Noen ganger (5–29 %)
Laryngotracheomalacia	Noen ganger (5–29 %)
Abnormality of the respiratory system	Sjelden (1–4%)
Floppy windpipe	Ikke registrert
Stiff lung or chest wall causing decreased lung volume	Ikke registrert

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Disproportionate short-limb short stature	Alltid
Short stature	Alltid
Disproportionate short stature	Svært ofte (80–99 %)
Growth delay	Svært ofte (80–99 %)
Severe short stature	Ofte (30–79 %)
Disproportionate tall stature	Ikke registrert
Growth abnormality	Ikke registrert
Neonatal short-limb short stature	Ikke registrert

Constitutional symptom

Kjennetegn	Hvor ofte den forekommer
Groin pain	Alltid
Hip pain	Alltid
Joint pain	Alltid
Impairment of activities of daily living	Ofte (30–79 %)

Laboratory abnormality

Kjennetegn	Hvor ofte den forekommer
Keratan sulfate excretion in urine	Svært ofte (80–99 %)
Fluid retention	Ofte (30–79 %)
Hydrops fetalis	Ofte (30–79 %)
Increased urinary type 1 collagen N-terminal telopeptide level	Sjelden (1–4%)

Abnormality of the integument

Kjennetegn	Hvor ofte den forekommer
Pretibial blistering	Svært ofte (80–99 %)
Skin erosion	Svært ofte (80–99 %)
Erythematous plaque	Noen ganger (5–29 %)

Abnormality of blood and blood-forming tissues

Kjennetegn	Hvor ofte den forekommer
Iron deficiency anemia	Sjelden (1–4%)

Abnormality of prenatal development or birth

Kjennetegn	Hvor ofte den forekommer
High levels of amniotic fluid	Ofte (30–79 %)

Abnormality of the cardiovascular system

Kjennetegn	Hvor ofte den forekommer
Mitral valve prolapse	Ofte (30–79 %)

Abnormality of the endocrine system

Kjennetegn	Hvor ofte den forekommer
Abnormal circulating osteocalcin level	Sjelden (1–4%)

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

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til COL2A1 og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

Én test. En livstid med svar.

Fra 449 $Gratis frakt · Resultater på 6–8 uker

Få mitt Genome Test