Trăsături

Trăsături asociate cu SLC26A2

solute carrier family 26 member 2

Human Phenotype Ontology asociază 198 trăsături cu SLC26A2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

SLC26A2

Abnormality of limbs

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

Abnormality of the musculoskeletal system

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

Abnormality of head or neck

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

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Large earlobe	Foarte des (80–99%)
Ears rotated toward back of head	Des (30–79%)
Overfolded ears	Des (30–79%)
Abnormal earlobe	Uneori (5–29%)
Abnormally shaped ears	Uneori (5–29%)
Hearing impairment	Uneori (5–29%)
Low-set ears	Uneori (5–29%)
Narrow ear canal	Uneori (5–29%)
Cystic lesions of the pinnae	Neînregistrat
Hypertrophic auricular cartilage	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Absent/small lungs	Foarte des (80–99%)
Laryngeal cartilage malformation	Des (30–79%)
Laryngeal stenosis	Des (30–79%)
Poorly developed lungs	Des (30–79%)
Tracheobronchomalacia	Des (30–79%)
Obstructive lung disease	Uneori (5–29%)
Respiratory function loss	Uneori (5–29%)
Laryngotracheal stenosis	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Disproportionate short-limb short stature	Întotdeauna
Small for gestational age	Întotdeauna
Disproportionate short stature	Foarte des (80–99%)
Neonatal short-limb short stature	Foarte des (80–99%)
Prenatal growth deficiency	Foarte des (80–99%)
Severe short stature	Foarte des (80–99%)
Short stature	Foarte des (80–99%)
Moderate short stature	Des (30–79%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Femoral hernia	Des (30–79%)
Umbilical hernia	Des (30–79%)
Belly sticks out	Uneori (5–29%)
Abdominal bloating	Neînregistrat
Inguinal hernia	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Cervical spina bifida	Des (30–79%)
Waddling gait	Des (30–79%)
Acroparesthesia	Uneori (5–29%)
Pressure on spinal cord	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal cardiovascular system morphology	Uneori (5–29%)
Visceral angiomatosis	Uneori (5–29%)
Glabellar hemangioma	Neînregistrat

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
High levels of amniotic fluid	Des (30–79%)
Feet or buttocks of fetus positioned near opening of uterus	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Blue outer white part of eyeball	Des (30–79%)
Wide-set eyes	Des (30–79%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Hyperelastic skin	Uneori (5–29%)
port-wine stain	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Hydrops fetalis	Foarte des (80–99%)
Fluid retention	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Undescended testes	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent respiratory infections	Des (30–79%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Hoarse voice	Neînregistrat

Constitutional symptom

Trăsătură	Cât de frecvent apare
Joint pain	Foarte des (80–99%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu SLC26A2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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