Tunnused

Geeniga SLC26A2 seotud tunnused

solute carrier family 26 member 2

Inimese fenotüübi ontoloogia seostab geeniga SLC26A2 198 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

SLC26A2

Abnormality of limbs

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

Abnormality of the musculoskeletal system

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

Abnormality of head or neck

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

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Large earlobe	Väga sageli (80–99%)
Ears rotated toward back of head	Sageli (30–79%)
Overfolded ears	Sageli (30–79%)
Abnormal earlobe	Mõnikord (5–29%)
Abnormally shaped ears	Mõnikord (5–29%)
Hearing impairment	Mõnikord (5–29%)
Low-set ears	Mõnikord (5–29%)
Narrow ear canal	Mõnikord (5–29%)
Cystic lesions of the pinnae	Pole registreeritud
Hypertrophic auricular cartilage	Pole registreeritud

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Absent/small lungs	Väga sageli (80–99%)
Laryngeal cartilage malformation	Sageli (30–79%)
Laryngeal stenosis	Sageli (30–79%)
Poorly developed lungs	Sageli (30–79%)
Tracheobronchomalacia	Sageli (30–79%)
Obstructive lung disease	Mõnikord (5–29%)
Respiratory function loss	Mõnikord (5–29%)
Laryngotracheal stenosis	Pole registreeritud

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Disproportionate short-limb short stature	Alati
Small for gestational age	Alati
Disproportionate short stature	Väga sageli (80–99%)
Neonatal short-limb short stature	Väga sageli (80–99%)
Prenatal growth deficiency	Väga sageli (80–99%)
Severe short stature	Väga sageli (80–99%)
Short stature	Väga sageli (80–99%)
Moderate short stature	Sageli (30–79%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Femoral hernia	Sageli (30–79%)
Umbilical hernia	Sageli (30–79%)
Belly sticks out	Mõnikord (5–29%)
Abdominal bloating	Pole registreeritud
Inguinal hernia	Pole registreeritud

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Cervical spina bifida	Sageli (30–79%)
Waddling gait	Sageli (30–79%)
Acroparesthesia	Mõnikord (5–29%)
Pressure on spinal cord	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Abnormal cardiovascular system morphology	Mõnikord (5–29%)
Visceral angiomatosis	Mõnikord (5–29%)
Glabellar hemangioma	Pole registreeritud

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
High levels of amniotic fluid	Sageli (30–79%)
Feet or buttocks of fetus positioned near opening of uterus	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Blue outer white part of eyeball	Sageli (30–79%)
Wide-set eyes	Sageli (30–79%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Hyperelastic skin	Mõnikord (5–29%)
port-wine stain	Mõnikord (5–29%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Hydrops fetalis	Väga sageli (80–99%)
Fluid retention	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Undescended testes	Mõnikord (5–29%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Recurrent respiratory infections	Sageli (30–79%)

Abnormality of the voice

Tunnus	Kui sageli seda täheldatakse
Hoarse voice	Pole registreeritud

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Joint pain	Väga sageli (80–99%)

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 SLC26A2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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