Požymiai

Su GDF5 susiję požymiai

growth differentiation factor 5

Žmogaus fenotipo ontologija sieja 154 požymių su GDF5, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Acromesomelia	Visada
Short calf bone	Visada
Short fingers or toes	Visada
Short middle bone of 4th finger	Visada
Short middle bone of index finger	Visada
Short middle bone of middle finger	Visada
Short middle bone of the little finger	Visada
Shortened 1st long bone of hand	Visada
Abnormal morphology of the radius	Labai dažnai (80–99%)
Abnormal morphology of ulna	Labai dažnai (80–99%)
Abnormality of the ankle	Labai dažnai (80–99%)
Abnormality of the shankbone	Labai dažnai (80–99%)
Abnormality of the thumb	Labai dažnai (80–99%)
Absent calf bone	Labai dažnai (80–99%)
Absent middle toe bones	Labai dažnai (80–99%)
Absent/small 1st long bone of hand	Labai dažnai (80–99%)
Absent/small calf bone	Labai dažnai (80–99%)
Absent/small long bones of hand	Labai dažnai (80–99%)
Bilateral single transverse palmar creases	Labai dažnai (80–99%)
Bowing of the long bones	Labai dažnai (80–99%)
Cone-shaped end part of the middle hand bones	Labai dažnai (80–99%)
Elbow dislocation	Labai dažnai (80–99%)
Finger bends toward pinky	Labai dažnai (80–99%)
Fused ankle bones	Labai dažnai (80–99%)
Fused finger bones	Labai dažnai (80–99%)
Fusion of wrist bones	Labai dažnai (80–99%)
Permanent flexion of the finger	Labai dažnai (80–99%)
Pseudoepiphyses of the 3rd finger	Labai dažnai (80–99%)
Pseudoepiphysis of the 2nd finger	Labai dažnai (80–99%)
Short 3rd finger	Labai dažnai (80–99%)
Short big toe	Labai dažnai (80–99%)
Short foot	Labai dažnai (80–99%)
Short index finger	Labai dažnai (80–99%)
Short index fingers and second toes	Labai dažnai (80–99%)
Short middle bone of finger	Labai dažnai (80–99%)
Short palm	Labai dažnai (80–99%)
Short thumb	Labai dažnai (80–99%)
Short toe	Labai dažnai (80–99%)
Smaller or shorter than typical limbs	Labai dažnai (80–99%)
Type C brachydactyly	Labai dažnai (80–99%)
Abnormal shape of long bones of hand	Dažnai (30–79%)
Abnormally shaped wrist bones	Dažnai (30–79%)
Absent toe	Dažnai (30–79%)
Absent/small thumb	Dažnai (30–79%)
Angel-shaped phalanx	Dažnai (30–79%)
Atypical position of finger	Dažnai (30–79%)
Broad thumb	Dažnai (30–79%)
Club foot on both sides	Dažnai (30–79%)
Complete duplication of outermost bone of the thumb	Dažnai (30–79%)
Curvature of finger	Dažnai (30–79%)
Curvature of little finger	Dažnai (30–79%)
Deformed ankle bones	Dažnai (30–79%)
Dislocated kneecap	Dažnai (30–79%)
Disproportionately short upper portion of limb	Dažnai (30–79%)
Elbow ankylosis	Dažnai (30–79%)
Enlarged end part of innermost long bone of index finger	Dažnai (30–79%)
Enlarged end part of innermost long bone of the middle finger	Dažnai (30–79%)
Enlarged end part of the middle bone of the index finger	Dažnai (30–79%)
Enlarged end part of the middle bone of the middle finger	Dažnai (30–79%)
Extra little finger	Dažnai (30–79%)
Fused long bone of hand with innermost finger bone	Dažnai (30–79%)
Hip dislocation	Dažnai (30–79%)
Incorrect alignment of wrist bone	Dažnai (30–79%)
Short finger bones	Dažnai (30–79%)
Short long bone of foot	Dažnai (30–79%)
Short shinbone	Dažnai (30–79%)
Short, cube shaped long bone of hand	Dažnai (30–79%)
Shortened long bone of hand	Dažnai (30–79%)
Speckled calcifications in the end part of the outermost thumb bone	Dažnai (30–79%)
Talipes equinovalgus	Dažnai (30–79%)
Triangular end part of innermost long bone of index finger	Dažnai (30–79%)
Triangular end part of innermost long bone of the middle finger	Dažnai (30–79%)
Triangular end part of the middle bone of the index finger	Dažnai (30–79%)
Triangular end part of the middle bone of the middle finger	Dažnai (30–79%)
Triangular shaped innermost bone of index finger	Dažnai (30–79%)
Triangular shaped innermost bone of middle finger	Dažnai (30–79%)
Triangular shaped middle bone of index finger	Dažnai (30–79%)
Triangular shaped middle bone of the middle finger	Dažnai (30–79%)
Ulnar deviation of the 2nd finger	Dažnai (30–79%)
Ulnar deviation of the 3rd finger	Dažnai (30–79%)
Abnormality of the wrist	Kartais (5–29%)
Absent/small middle index finger bone	Kartais (5–29%)
Club feet	Kartais (5–29%)
Finger syndactyly	Kartais (5–29%)
Fused outermost bones of hand	Kartais (5–29%)
Metatarsus valgus	Kartais (5–29%)
Shortened 2nd long bone of hand	Kartais (5–29%)
Underdeveloped inner large forearm bone	Kartais (5–29%)
Wide long bones of hand	Kartais (5–29%)
Abnormal finger flexion crease	Neužfiksuota
Absent/small kneecap	Neužfiksuota
Absent/small long bone of foot	Neužfiksuota
Absent/small middle bone of pinky finger	Neužfiksuota
Bowing of outer large bone of the forearm	Neužfiksuota
Broad big toe	Neužfiksuota
Bunion	Neužfiksuota
Distal femoral bowing	Neužfiksuota
Distal tibiofibular synostosis	Neužfiksuota
Dropped arches	Neužfiksuota
Fibular torsion	Neužfiksuota
Fused innermost and middle bones of little finger	Neužfiksuota
Fused wrist bones	Neužfiksuota
Fusion of upper and lower arm bones	Neužfiksuota
Hypersegmentation of proximal phalanx of second finger	Neužfiksuota
Hypersegmentation of proximal phalanx of third finger	Neužfiksuota
Madelung deformity	Neužfiksuota
Medially deviated second toe	Neužfiksuota
Pes valgus	Neužfiksuota
Radial deviation of the 2nd finger	Neužfiksuota
Short digit	Neužfiksuota
Short humerus	Neužfiksuota
Short outermost finger bone	Neužfiksuota
Short thighbone	Neužfiksuota
Shortening of all innermost bones of the fingers	Neužfiksuota
Shortening of all middle phalanges of the fingers	Neužfiksuota
Single transverse palmar crease	Neužfiksuota
Tibiotalar synostosis	Neužfiksuota
Triangular shaped middle little finger bone	Neužfiksuota
Underdeveloped outer large forearm bone	Neužfiksuota
Valgus hand deformity	Neužfiksuota
Webbed 2nd and 3rd toes	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Abnormal shape of end part of bone	Labai dažnai (80–99%)
Abnormal skeletal development	Labai dažnai (80–99%)
Abnormality of the hip bone	Labai dažnai (80–99%)
Joint stiffness	Labai dažnai (80–99%)
Limitation of joint mobility	Labai dažnai (80–99%)
Proximal symphalangism	Labai dažnai (80–99%)
Abnormal formation of the hip	Dažnai (30–79%)
Abnormal shape of pelvic girdle bone	Dažnai (30–79%)
Cone-shaped end part of bone	Dažnai (30–79%)
Delayed bone maturation	Dažnai (30–79%)
Hip osteoarthritis	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Double-Jointed	Kartais (5–29%)
Flexed joint that cannot be straightened	Neužfiksuota
Vertebral fusion	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Narrow nasal bridge	Labai dažnai (80–99%)
Delayed eruption of teeth	Dažnai (30–79%)
Failure of development of between one and six teeth	Dažnai (30–79%)
Facial asymmetry	Kartais (5–29%)
Wide nose	Neužfiksuota

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Abnormal fingernails	Dažnai (30–79%)
Small nail	Dažnai (30–79%)
Abnormality of the nail	Kartais (5–29%)
Absent/small toenails	Neužfiksuota

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Disproportionate short-limb short stature	Labai dažnai (80–99%)
Severe short-limb dwarfism	Labai dažnai (80–99%)
Short stature	Labai dažnai (80–99%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Conductive deafness	Labai dažnai (80–99%)
Sensorineural hearing impairment	Dažnai (30–79%)

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Abnormal speech pattern	Labai dažnai (80–99%)
Cognitive impairment	Dažnai (30–79%)

Abnormal tissue mass

Požymis	Kaip dažnai pasireiškia
Cancer of connective tissue	Labai dažnai (80–99%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Cross-eyed	Kartais (5–29%)

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 GDF5 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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