Požymiai

Su SLC26A2 susiję požymiai

solute carrier family 26 member 2

Žmogaus fenotipo ontologija sieja 198 požymių su SLC26A2, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

SLC26A2

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Hitchhiker thumb	Visada
Abnormal shape of long bones of hand	Labai dažnai (80–99%)
Abnormality of the wide portion of a long bone	Labai dažnai (80–99%)
Attachment of thumb close to wrist	Labai dažnai (80–99%)
Bowing of the long bones	Labai dažnai (80–99%)
Fused finger bones	Labai dažnai (80–99%)
Knock knees	Labai dažnai (80–99%)
Limb undergrowth	Labai dažnai (80–99%)
Short finger	Labai dažnai (80–99%)
Short foot	Labai dažnai (80–99%)
Smaller or shorter than typical limbs	Labai dažnai (80–99%)
Acetabular dysplasia	Dažnai (30–79%)
Club feet	Dažnai (30–79%)
Club foot on both sides	Dažnai (30–79%)
Coxa vara	Dažnai (30–79%)
Dislocated kneecap	Dažnai (30–79%)
Disproportionately short upper portion of limb	Dažnai (30–79%)
Double-layered patella	Dažnai (30–79%)
Dumbbell-shaped thighbone	Dažnai (30–79%)
Elbow flexion contracture	Dažnai (30–79%)
Equinovarus deformity	Dažnai (30–79%)
Finger bends toward pinky	Dažnai (30–79%)
Front half of foot turns inward	Dažnai (30–79%)
Gap between 1st and 2nd toes	Dažnai (30–79%)
Internally rotated hips	Dažnai (30–79%)
Permanent flexion of the finger	Dažnai (30–79%)
Rhizomelic arm shortening	Dažnai (30–79%)
Short finger bones	Dažnai (30–79%)
Short fingers or toes	Dažnai (30–79%)
Short lower limbs	Dažnai (30–79%)
Short thighbone	Dažnai (30–79%)
Shortened long bone of hand	Dažnai (30–79%)
Tibial torsion	Dažnai (30–79%)
Ulnar deviation of the hand or of fingers of the hand	Dažnai (30–79%)
Upper limb undergrowth	Dažnai (30–79%)
Wide digital bones	Dažnai (30–79%)
Wide long bones of hand	Dažnai (30–79%)
Abnormal shape of hand	Kartais (5–29%)
Abnormal ulnar epiphysis morphology	Kartais (5–29%)
Abnormality of forearm bone	Kartais (5–29%)
Acromicria	Kartais (5–29%)
Bowing of outer large bone of the forearm	Kartais (5–29%)
Broad femoral neck	Kartais (5–29%)
Broad foot	Kartais (5–29%)
Broad wide portion of long bone	Kartais (5–29%)
Contracture of the proximal interphalangeal joint of the 3rd finger	Kartais (5–29%)
Curvature of little finger	Kartais (5–29%)
Curving of inner forearm bone	Kartais (5–29%)
Delayed maturation of the head of the thigh bone	Kartais (5–29%)
Elbow dislocation	Kartais (5–29%)
Flattened radial epiphyses	Kartais (5–29%)
Fusion of the long bones of the feet	Kartais (5–29%)
Hip dislocation	Kartais (5–29%)
Short long bone of foot	Kartais (5–29%)
Short neck of thighbone	Kartais (5–29%)
Short thumb	Kartais (5–29%)
Short toe	Kartais (5–29%)
Skewfoot	Kartais (5–29%)
Ulnar deviation of the hand	Kartais (5–29%)
Flat acetabular roof	Neužfiksuota
Flat end part of innermost thighbone	Neužfiksuota
Hip contracture	Neužfiksuota
Limited elbow flexion	Neužfiksuota
Notched long bone in upper arm	Neužfiksuota
Short middle bone of finger	Neužfiksuota
Small head of thigh bone	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Increased intervertebral space	Visada
Abnormal collarbone	Labai dažnai (80–99%)
Abnormal enchondral ossification	Labai dažnai (80–99%)
Abnormal shape of end part of bone	Labai dažnai (80–99%)
Abnormal skeletal development	Labai dažnai (80–99%)
Abnormal vertebral body morphology	Labai dažnai (80–99%)
Abnormality of the ribs	Labai dažnai (80–99%)
Hypoplastic cervical vertebrae	Labai dažnai (80–99%)
Increased bone mineral density	Labai dažnai (80–99%)
Lethal skeletal dysplasia	Labai dažnai (80–99%)
Multiple epiphyseal dysplasia	Labai dažnai (80–99%)
Narrow chest	Labai dažnai (80–99%)
Scoliosis	Labai dažnai (80–99%)
Shorter than typical length between neck and abdomen	Labai dažnai (80–99%)
Abnormal formation of the hip	Dažnai (30–79%)
Advanced bone age	Dažnai (30–79%)
Bell-shaped thorax	Dažnai (30–79%)
Excessive inward curvature of lower spine	Dažnai (30–79%)
Flat end part of bone	Dažnai (30–79%)
Flattended end part of thigh bone	Dažnai (30–79%)
Flexed joint that cannot be straightened	Dažnai (30–79%)
Hip joint pain	Dažnai (30–79%)
Hunched back	Dažnai (30–79%)
Joint contracture	Dažnai (30–79%)
Joint dislocation	Dažnai (30–79%)
Joint stiffness	Dažnai (30–79%)
Limitation of joint mobility	Dažnai (30–79%)
Low muscle tone	Dažnai (30–79%)
Permanent flexion of the finger or toe	Dažnai (30–79%)
Premature osteoarthritis	Dažnai (30–79%)
Rounded neck	Dažnai (30–79%)
Short ribs	Dažnai (30–79%)
Small chest	Dažnai (30–79%)
Thoracolumbar kyphoscoliosis	Dažnai (30–79%)
Thoracolumbar kyphosis	Dažnai (30–79%)
Abnormal deposits of calcium in the brain	Kartais (5–29%)
Double-Jointed	Kartais (5–29%)
Stiff ankle	Kartais (5–29%)
Abnormal development of end part of bone	Neužfiksuota
Abnormal shape of pelvic girdle bone	Neužfiksuota
Absent or minimally ossified vertebral bodies	Neužfiksuota
Coronal cleft vertebrae	Neužfiksuota
Costal cartilage calcification	Neužfiksuota
Flattened vertebrae	Neužfiksuota
Horizontal sacrum	Neužfiksuota
Irregular end part of long bone	Neužfiksuota
Kyphoscoliosis	Neužfiksuota
Lacunar halos around chondrocytes	Neužfiksuota
Short greater sciatic notch	Neužfiksuota
Short long bone	Neužfiksuota
Small wings of the pelvic girdle	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Big calvaria	Labai dažnai (80–99%)
Depressed nasal bridge	Labai dažnai (80–99%)
Flat face	Labai dažnai (80–99%)
Frontal bossing	Labai dažnai (80–99%)
Little lower jaw	Labai dažnai (80–99%)
Long philtrum	Labai dažnai (80–99%)
Midface retrusion	Labai dažnai (80–99%)
Nasal tip, upturned	Labai dažnai (80–99%)
Short neck	Labai dažnai (80–99%)
Short nose	Labai dažnai (80–99%)
Thickened skin folds of neck	Labai dažnai (80–99%)
Abnormal facial shape	Dažnai (30–79%)
Cleft palate	Dažnai (30–79%)
Full cheeks	Dažnai (30–79%)
Short chin	Dažnai (30–79%)
Underdeveloped tissue around nostril	Dažnai (30–79%)
Asymmetry of the posterior head	Kartais (5–29%)
Broad forehead	Kartais (5–29%)
Corners of eye widely separated	Kartais (5–29%)
Cystic hygroma	Kartais (5–29%)
Downward slanting of the opening between the eyelids	Kartais (5–29%)
Eye folds	Kartais (5–29%)
Facial midline hemangioma	Kartais (5–29%)
High frontal hairline	Kartais (5–29%)
High palate	Kartais (5–29%)
Narrow mouth	Kartais (5–29%)
Narrow nose	Kartais (5–29%)
Right and left cleft palate	Kartais (5–29%)
Thin red part of the upper lip	Kartais (5–29%)
Wide nasal base	Kartais (5–29%)
Zygomatic flattening	Neužfiksuota

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Large earlobe	Labai dažnai (80–99%)
Ears rotated toward back of head	Dažnai (30–79%)
Overfolded ears	Dažnai (30–79%)
Abnormal earlobe	Kartais (5–29%)
Abnormally shaped ears	Kartais (5–29%)
Hearing impairment	Kartais (5–29%)
Low-set ears	Kartais (5–29%)
Narrow ear canal	Kartais (5–29%)
Cystic lesions of the pinnae	Neužfiksuota
Hypertrophic auricular cartilage	Neužfiksuota

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Absent/small lungs	Labai dažnai (80–99%)
Laryngeal cartilage malformation	Dažnai (30–79%)
Laryngeal stenosis	Dažnai (30–79%)
Poorly developed lungs	Dažnai (30–79%)
Tracheobronchomalacia	Dažnai (30–79%)
Obstructive lung disease	Kartais (5–29%)
Respiratory function loss	Kartais (5–29%)
Laryngotracheal stenosis	Neužfiksuota

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Disproportionate short-limb short stature	Visada
Small for gestational age	Visada
Disproportionate short stature	Labai dažnai (80–99%)
Neonatal short-limb short stature	Labai dažnai (80–99%)
Prenatal growth deficiency	Labai dažnai (80–99%)
Severe short stature	Labai dažnai (80–99%)
Short stature	Labai dažnai (80–99%)
Moderate short stature	Dažnai (30–79%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Femoral hernia	Dažnai (30–79%)
Umbilical hernia	Dažnai (30–79%)
Belly sticks out	Kartais (5–29%)
Abdominal bloating	Neužfiksuota
Inguinal hernia	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Cervical spina bifida	Dažnai (30–79%)
Waddling gait	Dažnai (30–79%)
Acroparesthesia	Kartais (5–29%)
Pressure on spinal cord	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Abnormal cardiovascular system morphology	Kartais (5–29%)
Visceral angiomatosis	Kartais (5–29%)
Glabellar hemangioma	Neužfiksuota

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
High levels of amniotic fluid	Dažnai (30–79%)
Feet or buttocks of fetus positioned near opening of uterus	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Blue outer white part of eyeball	Dažnai (30–79%)
Wide-set eyes	Dažnai (30–79%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Hyperelastic skin	Kartais (5–29%)
port-wine stain	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Hydrops fetalis	Labai dažnai (80–99%)
Fluid retention	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Undescended testes	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Recurrent respiratory infections	Dažnai (30–79%)

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Hoarse voice	Neužfiksuota

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Joint pain	Labai dažnai (80–99%)

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 SLC26A2 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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