Egenskaper

Egenskaper kopplade till COL2A1

collagen type II alpha 1 chain

Human Phenotype Ontology kopplar 350 egenskaper till COL2A1, sorterade efter kroppssystem: drag som ses hos personer med ett av genens sällsynta tillstånd.

COL2A1

Abnormality of the musculoskeletal system

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

Abnormality of limbs

Egenskap	Hur ofta den förekommer
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	Mycket ofta (80–99 %)
Abnormal wrist bones	Mycket ofta (80–99 %)
Abnormality of femoral head development	Mycket ofta (80–99 %)
Abnormality of the wide portion of a long bone	Mycket ofta (80–99 %)
Aplasia/hypoplasia involving bones of the extremities	Mycket ofta (80–99 %)
Bowing of the long bones	Mycket ofta (80–99 %)
Corner fracture of metaphysis	Mycket ofta (80–99 %)
Coxa vara	Mycket ofta (80–99 %)
Flared wide portion of long bone	Mycket ofta (80–99 %)
Flexion contracture of finger	Mycket ofta (80–99 %)
Left and right leg differ in length or width	Mycket ofta (80–99 %)
Metaphyseal cupping	Mycket ofta (80–99 %)
Metaphyseal dysplasia	Mycket ofta (80–99 %)
Short foot	Mycket ofta (80–99 %)
Short outermost finger bone	Mycket ofta (80–99 %)
Short palm	Mycket ofta (80–99 %)
Small innermost thighbone end part	Mycket ofta (80–99 %)
Smaller or shorter than typical limbs	Mycket ofta (80–99 %)
Abnormal ulnar metaphysis morphology	Ofta (30–79 %)
Abnormality of the calf bone	Ofta (30–79 %)
Abnormality of the end part of the innermost thighbone	Ofta (30–79 %)
Abnormality of the hip joint	Ofta (30–79 %)
Abnormality of the knee	Ofta (30–79 %)
Absent/small extremities	Ofta (30–79 %)
Bowing of outer large bone of the forearm	Ofta (30–79 %)
Broad wide portion of long bone	Ofta (30–79 %)
Coxa valga	Ofta (30–79 %)
Curvature of digit	Ofta (30–79 %)
Delayed proximal femoral epiphyseal ossification	Ofta (30–79 %)
Dumbbell-shaped long bone	Ofta (30–79 %)
Enlarged wide portion of a long bone	Ofta (30–79 %)
Flat head of thigh bone	Ofta (30–79 %)
Internal tibial torsion	Ofta (30–79 %)
Knock knees	Ofta (30–79 %)
Metaphyseal enchondromatosis	Ofta (30–79 %)
Short lower limbs	Ofta (30–79 %)
Type E brachydactyly	Ofta (30–79 %)
Underdeveloped inner large forearm bone	Ofta (30–79 %)
Upper limb undergrowth	Ofta (30–79 %)
Abnormal feet structure	Ibland (5–29 %)
Abnormal shape of long bones of hand	Ibland (5–29 %)
Abnormality of the wrist	Ibland (5–29 %)
Broad big toe	Ibland (5–29 %)
Club feet	Ibland (5–29 %)
Delayed bone maturation of the knee cap	Ibland (5–29 %)
Delayed maturation of wrist bone	Ibland (5–29 %)
Irregular acetabular roof	Ibland (5–29 %)
Limited elbow movement	Ibland (5–29 %)
Short neck of thighbone	Ibland (5–29 %)
Short thighbone	Ibland (5–29 %)
Talipes	Ibland (5–29 %)
Abnormal epiphysis morphology of the phalanges of the hand	Inte registrerat
Abnormality of thighbone end part	Inte registrerat
Absent styloid process of ulna	Inte registrerat
Bowed long bone in upper arm	Inte registrerat
Broad palm	Inte registrerat
Broad thumb	Inte registrerat
Club-shaped innermost end of thighbone	Inte registrerat
Cone-shaped end part of finger bones	Inte registrerat
Delayed distal femoral epiphyseal ossification	Inte registrerat
Delayed heel bone maturation	Inte registrerat
Dropped arches	Inte registrerat
Flared femoral metaphysis	Inte registrerat
Hip contracture	Inte registrerat
Hip dislocation	Inte registrerat
Hypoplasia of proximal radius	Inte registrerat
Irregular thighbone end part	Inte registrerat
Limitation of knee mobility	Inte registrerat
Long slender fingers	Inte registrerat
Metaphyseal dappling	Inte registrerat
Narrow neck of thigh bone	Inte registrerat
Short finger bones	Inte registrerat
Short thumb	Inte registrerat
Short tubular bones of the hand	Inte registrerat
Shortening of all innermost bones of the fingers	Inte registrerat
Small carpal bones	Inte registrerat
Tibial metaphyseal irregularity	Inte registrerat

Abnormality of head or neck

Egenskap	Hur ofta den förekommer
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	Mycket ofta (80–99 %)
Decreased size of maxilla	Mycket ofta (80–99 %)
Round face	Mycket ofta (80–99 %)
Short nose	Mycket ofta (80–99 %)
Coarse facial features	Ofta (30–79 %)
Flat face	Ofta (30–79 %)
Increased head circumference	Ofta (30–79 %)
Little lower jaw	Ofta (30–79 %)
Midface retrusion	Ofta (30–79 %)
Pierre-Robin sequence	Ofta (30–79 %)
Prominent forehead	Ofta (30–79 %)
Retraction of the tongue	Ofta (30–79 %)
Stiff neck	Ofta (30–79 %)
Bifid uvula	Ibland (5–29 %)
Cleft soft palate	Ibland (5–29 %)
Decrease in jaw mobility	Ibland (5–29 %)
Dental cavities	Ibland (5–29 %)
Facial asymmetry	Ibland (5–29 %)
High palate	Ibland (5–29 %)
Pointed chin	Ibland (5–29 %)
Skin tag in front of the ear	Ibland (5–29 %)
Submucous cleft hard palate	Ibland (5–29 %)
Big calvaria	Sällan (1–4%)
Boxer-like facial appearance	Inte registrerat
Cystic hygroma	Inte registrerat
Decreased cranial base ossification	Inte registrerat
Narrow mouth	Inte registrerat
Nasal tip, upturned	Inte registrerat

Abnormality of the eye

Egenskap	Hur ofta den förekommer
Close sighted	Alltid
Increased size of eyes	Alltid
Severe near sightedness	Alltid
Vitreoretinopathy	Alltid
Abnormal vitreous humor morphology	Mycket ofta (80–99 %)
Bulging eye	Mycket ofta (80–99 %)
Clouding of the lens of the eye	Mycket ofta (80–99 %)
Degenerative vitreoretinopathy	Mycket ofta (80–99 %)
Retinal detachment	Mycket ofta (80–99 %)
Abnormality of the eye	Ofta (30–79 %)
Absent/small lens	Ofta (30–79 %)
Lattice retinal degeneration	Ofta (30–79 %)
Retinal hole	Ofta (30–79 %)
Rhegmatogenous retinal detachment	Ofta (30–79 %)
Wide-set eyes	Ofta (30–79 %)
Completely dislocated lens	Ibland (5–29 %)
Drooping of both upper eyelids	Ibland (5–29 %)
Glaucoma	Ibland (5–29 %)
Partially dislocated lens	Ibland (5–29 %)
Visual impairment	Ibland (5–29 %)
Visual loss	Ibland (5–29 %)
Cross-eyed	Sällan (1–4%)
High eye pressure	Sällan (1–4%)
Asteroid hyalosis	Inte registrerat
Blindness	Inte registrerat
Membranous vitreous appearance	Inte registrerat
Optically empty vitreous	Inte registrerat
Retinal thinning	Inte registrerat

Abnormality of the ear

Egenskap	Hur ofta den förekommer
Sensorineural hearing impairment	Mycket ofta (80–99 %)
Hearing impairment	Ofta (30–79 %)
Low-set ears	Ofta (30–79 %)
Tympanic membrane hypermobility	Ofta (30–79 %)
Abnormal antitragus morphology	Ibland (5–29 %)
Conductive deafness	Ibland (5–29 %)
Ears rotated toward back of head	Ibland (5–29 %)
Narrow ear canal	Ibland (5–29 %)
Prominent ear	Ibland (5–29 %)
Small earlobe	Ibland (5–29 %)
Underfolded helix	Ibland (5–29 %)
Recurrent middle ear infection	Inte registrerat

Abnormality of the digestive system

Egenskap	Hur ofta den förekommer
Belly sticks out	Alltid
Abdominal bloating	Mycket ofta (80–99 %)
Acid reflux	Ibland (5–29 %)
Gastrostomy tube feeding in infancy	Ibland (5–29 %)
Nasogastric tube feeding in infancy	Ibland (5–29 %)
Poor suck	Ibland (5–29 %)
Inguinal hernia	Inte registrerat
Umbilical hernia	Inte registrerat

Abnormality of the nervous system

Egenskap	Hur ofta den förekommer
Waddling gait	Alltid
Delayed motor skills	Ofta (30–79 %)
Short stepped shuffling walk	Ofta (30–79 %)
Intellectual disability	Ibland (5–29 %)
Motor delay	Ibland (5–29 %)
Pressure on spinal cord	Ibland (5–29 %)
Abnormal gait	Inte registrerat
Cervical myelopathy	Inte registrerat

Abnormality of the respiratory system

Egenskap	Hur ofta den förekommer
Breathing difficulties	Ofta (30–79 %)
Poorly developed lungs	Ofta (30–79 %)
Cardiorespiratory arrest	Ibland (5–29 %)
Functional respiratory abnormality	Ibland (5–29 %)
Laryngotracheomalacia	Ibland (5–29 %)
Abnormality of the respiratory system	Sällan (1–4%)
Floppy windpipe	Inte registrerat
Stiff lung or chest wall causing decreased lung volume	Inte registrerat

Growth abnormality

Egenskap	Hur ofta den förekommer
Disproportionate short-limb short stature	Alltid
Short stature	Alltid
Disproportionate short stature	Mycket ofta (80–99 %)
Growth delay	Mycket ofta (80–99 %)
Severe short stature	Ofta (30–79 %)
Disproportionate tall stature	Inte registrerat
Growth abnormality	Inte registrerat
Neonatal short-limb short stature	Inte registrerat

Constitutional symptom

Egenskap	Hur ofta den förekommer
Groin pain	Alltid
Hip pain	Alltid
Joint pain	Alltid
Impairment of activities of daily living	Ofta (30–79 %)

Laboratory abnormality

Egenskap	Hur ofta den förekommer
Keratan sulfate excretion in urine	Mycket ofta (80–99 %)
Fluid retention	Ofta (30–79 %)
Hydrops fetalis	Ofta (30–79 %)
Increased urinary type 1 collagen N-terminal telopeptide level	Sällan (1–4%)

Abnormality of the integument

Egenskap	Hur ofta den förekommer
Pretibial blistering	Mycket ofta (80–99 %)
Skin erosion	Mycket ofta (80–99 %)
Erythematous plaque	Ibland (5–29 %)

Abnormality of blood and blood-forming tissues

Egenskap	Hur ofta den förekommer
Iron deficiency anemia	Sällan (1–4%)

Abnormality of prenatal development or birth

Egenskap	Hur ofta den förekommer
High levels of amniotic fluid	Ofta (30–79 %)

Abnormality of the cardiovascular system

Egenskap	Hur ofta den förekommer
Mitral valve prolapse	Ofta (30–79 %)

Abnormality of the endocrine system

Egenskap	Hur ofta den förekommer
Abnormal circulating osteocalcin level	Sällan (1–4%)

Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.

Varifrån informationen kommer

Human Phenotype Ontology, version 2026-09-01: egenskaperna som kopplas till COL2A1 och hur ofta varje egenskap ses. Läs mer på hpo.jax.org.

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