Tunnused

Geeniga COL2A1 seotud tunnused

collagen type II alpha 1 chain

Inimese fenotüübi ontoloogia seostab geeniga COL2A1 350 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

COL2A1

Abnormality of the musculoskeletal system

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

Abnormality of limbs

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

Abnormality of head or neck

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

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Close sighted	Alati
Increased size of eyes	Alati
Severe near sightedness	Alati
Vitreoretinopathy	Alati
Abnormal vitreous humor morphology	Väga sageli (80–99%)
Bulging eye	Väga sageli (80–99%)
Clouding of the lens of the eye	Väga sageli (80–99%)
Degenerative vitreoretinopathy	Väga sageli (80–99%)
Retinal detachment	Väga sageli (80–99%)
Abnormality of the eye	Sageli (30–79%)
Absent/small lens	Sageli (30–79%)
Lattice retinal degeneration	Sageli (30–79%)
Retinal hole	Sageli (30–79%)
Rhegmatogenous retinal detachment	Sageli (30–79%)
Wide-set eyes	Sageli (30–79%)
Completely dislocated lens	Mõnikord (5–29%)
Drooping of both upper eyelids	Mõnikord (5–29%)
Glaucoma	Mõnikord (5–29%)
Partially dislocated lens	Mõnikord (5–29%)
Visual impairment	Mõnikord (5–29%)
Visual loss	Mõnikord (5–29%)
Cross-eyed	Harva (1–4%)
High eye pressure	Harva (1–4%)
Asteroid hyalosis	Pole registreeritud
Blindness	Pole registreeritud
Membranous vitreous appearance	Pole registreeritud
Optically empty vitreous	Pole registreeritud
Retinal thinning	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Sensorineural hearing impairment	Väga sageli (80–99%)
Hearing impairment	Sageli (30–79%)
Low-set ears	Sageli (30–79%)
Tympanic membrane hypermobility	Sageli (30–79%)
Abnormal antitragus morphology	Mõnikord (5–29%)
Conductive deafness	Mõnikord (5–29%)
Ears rotated toward back of head	Mõnikord (5–29%)
Narrow ear canal	Mõnikord (5–29%)
Prominent ear	Mõnikord (5–29%)
Small earlobe	Mõnikord (5–29%)
Underfolded helix	Mõnikord (5–29%)
Recurrent middle ear infection	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Belly sticks out	Alati
Abdominal bloating	Väga sageli (80–99%)
Acid reflux	Mõnikord (5–29%)
Gastrostomy tube feeding in infancy	Mõnikord (5–29%)
Nasogastric tube feeding in infancy	Mõnikord (5–29%)
Poor suck	Mõnikord (5–29%)
Inguinal hernia	Pole registreeritud
Umbilical hernia	Pole registreeritud

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Waddling gait	Alati
Delayed motor skills	Sageli (30–79%)
Short stepped shuffling walk	Sageli (30–79%)
Intellectual disability	Mõnikord (5–29%)
Motor delay	Mõnikord (5–29%)
Pressure on spinal cord	Mõnikord (5–29%)
Abnormal gait	Pole registreeritud
Cervical myelopathy	Pole registreeritud

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Breathing difficulties	Sageli (30–79%)
Poorly developed lungs	Sageli (30–79%)
Cardiorespiratory arrest	Mõnikord (5–29%)
Functional respiratory abnormality	Mõnikord (5–29%)
Laryngotracheomalacia	Mõnikord (5–29%)
Abnormality of the respiratory system	Harva (1–4%)
Floppy windpipe	Pole registreeritud
Stiff lung or chest wall causing decreased lung volume	Pole registreeritud

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Disproportionate short-limb short stature	Alati
Short stature	Alati
Disproportionate short stature	Väga sageli (80–99%)
Growth delay	Väga sageli (80–99%)
Severe short stature	Sageli (30–79%)
Disproportionate tall stature	Pole registreeritud
Growth abnormality	Pole registreeritud
Neonatal short-limb short stature	Pole registreeritud

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Groin pain	Alati
Hip pain	Alati
Joint pain	Alati
Impairment of activities of daily living	Sageli (30–79%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Keratan sulfate excretion in urine	Väga sageli (80–99%)
Fluid retention	Sageli (30–79%)
Hydrops fetalis	Sageli (30–79%)
Increased urinary type 1 collagen N-terminal telopeptide level	Harva (1–4%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Pretibial blistering	Väga sageli (80–99%)
Skin erosion	Väga sageli (80–99%)
Erythematous plaque	Mõnikord (5–29%)

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Iron deficiency anemia	Harva (1–4%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
High levels of amniotic fluid	Sageli (30–79%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Mitral valve prolapse	Sageli (30–79%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Abnormal circulating osteocalcin level	Harva (1–4%)

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

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga COL2A1 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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