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Tunnused
Geeniga SOX9 seotud tunnused
SRY-box transcription factor 9
Inimese fenotüübi ontoloogia seostab geeniga SOX9 177 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
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Abnormality of the genitourinary system
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Depressed nasal bridge | Alati |
| Little lower jaw | Alati |
| Midface retrusion | Alati |
| Big calvaria | Väga sageli (80–99%) |
| Cleft palate | Väga sageli (80–99%) |
| Flat face | Väga sageli (80–99%) |
| Retraction of the tongue | Väga sageli (80–99%) |
| Short neck | Väga sageli (80–99%) |
| Relatively large head | Sageli (30–79%) |
| Abnormality of the sense of smell | Mõnikord (5–29%) |
| Blockage of the rear opening of the nasal cavity | Mõnikord (5–29%) |
| Dental cavities | Mõnikord (5–29%) |
| Eye folds | Mõnikord (5–29%) |
| Frontal bossing | Mõnikord (5–29%) |
| High palate | Mõnikord (5–29%) |
| Irregular teeth | Mõnikord (5–29%) |
| Long philtrum | Mõnikord (5–29%) |
| Narrow mouth | Mõnikord (5–29%) |
| Recurrent colds | Mõnikord (5–29%) |
| Submucous cleft hard palate | Mõnikord (5–29%) |
| Flat nose | Pole registreeritud |
| High forehead | Pole registreeritud |
| Narrow opening between the eyelids | Pole registreeritud |
| Short opening between the eyelids | Pole registreeritud |
| Small face | Pole registreeritud |
| Wider-than-typical soft spot of skull | Pole registreeritud |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Cervical spine instability | Alati |
| Rounded neck | Alati |
| 11 pairs of ribs | Väga sageli (80–99%) |
| Hypoplastic inferior ilia | Väga sageli (80–99%) |
| Narrow chest | Väga sageli (80–99%) |
| Osteoporosis | Väga sageli (80–99%) |
| Poorly ossified cervical vertebrae | Väga sageli (80–99%) |
| Recurrent fractures | Väga sageli (80–99%) |
| Scoliosis | Väga sageli (80–99%) |
| Short long bone | Väga sageli (80–99%) |
| Small abnormally formed shoulder blade | Väga sageli (80–99%) |
| Kyphoscoliosis | Sageli (30–79%) |
| Small shoulder blade | Sageli (30–79%) |
| Delayed bone maturation | Mõnikord (5–29%) |
| Delayed maturation of end part of long bone | Mõnikord (5–29%) |
| Double-Jointed | Mõnikord (5–29%) |
| Hunched back | Mõnikord (5–29%) |
| Low muscle tone | Mõnikord (5–29%) |
| Narrow iliac wing | Mõnikord (5–29%) |
| Pigeon chest | Mõnikord (5–29%) |
| Thoracic scoliosis | Mõnikord (5–29%) |
| Absent bone maturation in sternum | Pole registreeritud |
| Hypoplastic cervical vertebrae | Pole registreeritud |
| Hypoplastic iliac wing | Pole registreeritud |
| Small chest | Pole registreeritud |
| Thin ribs | Pole registreeritud |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Bowed shankbone | Väga sageli (80–99%) |
| Bowing of the long bones | Väga sageli (80–99%) |
| Hip dislocation | Väga sageli (80–99%) |
| Short calf bone | Väga sageli (80–99%) |
| Bowed thighbone | Sageli (30–79%) |
| Club feet | Sageli (30–79%) |
| Club foot on both sides | Sageli (30–79%) |
| Dislocated radial head | Sageli (30–79%) |
| Shortened 1st long bone of hand | Sageli (30–79%) |
| Small kneecap | Sageli (30–79%) |
| Anterior tibial bowing | Mõnikord (5–29%) |
| Bunion | Mõnikord (5–29%) |
| Contracture of the distal interphalangeal joint of the fingers | Mõnikord (5–29%) |
| Dropped arches | Mõnikord (5–29%) |
| Front half of foot turns inward | Mõnikord (5–29%) |
| Short finger bones | Mõnikord (5–29%) |
| Short toe bones | Pole registreeritud |
| Shortening of all finger bones | Pole registreeritud |
Abnormality of the respiratory system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Floppy windpipe | Väga sageli (80–99%) |
| Respiratory function loss | Väga sageli (80–99%) |
| Softening of voice box tissue | Väga sageli (80–99%) |
| Tracheobronchomalacia | Väga sageli (80–99%) |
| Apnea | Sageli (30–79%) |
| Low blood oxygen level | Sageli (30–79%) |
| Neonatal respiratory distress | Sageli (30–79%) |
| Noisy breathing | Sageli (30–79%) |
| Upper airway obstruction | Sageli (30–79%) |
| Bronchomalacia | Mõnikord (5–29%) |
| Narrowing of windpipe | Mõnikord (5–29%) |
| Subglottic stenosis | Mõnikord (5–29%) |
| Breathing difficulties | Pole registreeritud |
Abnormality of the endocrine system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Decreased serum testosterone level | Alati |
| Elevated circulating follicle stimulating hormone level | Alati |
| Elevated circulating luteinizing hormone level | Alati |
| Decreased function of male gonad | Väga sageli (80–99%) |
| Decreased serum estradiol | Väga sageli (80–99%) |
| Hypergonadotropic hypogonadism | Väga sageli (80–99%) |
| Hypogonadotropic hypogonadism | Väga sageli (80–99%) |
| Increased circulating gonadotropin level | Väga sageli (80–99%) |
| Delayed puberty | Sageli (30–79%) |
| Absence of secondary sex characteristics | Mõnikord (5–29%) |
| Adrenal insufficiency | Mõnikord (5–29%) |
| Primary gonadal insufficiency | Mõnikord (5–29%) |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Epilepsy | Mõnikord (5–29%) |
| Global developmental delay | Mõnikord (5–29%) |
| Hypoplasia of olfactory tract | Mõnikord (5–29%) |
| Mild global developmental delay | Mõnikord (5–29%) |
| Moderate global developmental delay | Mõnikord (5–29%) |
| Pauses in breathing while sleeping | Mõnikord (5–29%) |
| Spinal dysraphism | Mõnikord (5–29%) |
| Split spine | Mõnikord (5–29%) |
| Ventriculomegaly | Mõnikord (5–29%) |
| Too much cerebrospinal fluid in the brain | Pole registreeritud |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Limited armpit hair | Väga sageli (80–99%) |
| Sparse pubic hair | Väga sageli (80–99%) |
| Pretibial dimple | Sageli (30–79%) |
| Skin dimple | Sageli (30–79%) |
| Blue discoloration of the skin | Mõnikord (5–29%) |
| Short nail | Mõnikord (5–29%) |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal cardiovascular system morphology | Mõnikord (5–29%) |
| Cor pulmonale | Mõnikord (5–29%) |
| increased pulmonary artery pressure | Mõnikord (5–29%) |
| Abnormality of the heart | Pole registreeritud |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Faltering weight | Sageli (30–79%) |
| Short stature | Sageli (30–79%) |
| Disproportionate short-limb short stature | Pole registreeritud |
| Neonatal short-limb short stature | Pole registreeritud |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Feeding difficulties in infancy | Sageli (30–79%) |
| Feeding difficulties | Mõnikord (5–29%) |
| Poor swallowing | Mõnikord (5–29%) |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Conductive deafness | Sageli (30–79%) |
| Low-set ears | Sageli (30–79%) |
| Hearing impairment | Mõnikord (5–29%) |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Wide-set eyes | Väga sageli (80–99%) |
| Bulging eye | Sageli (30–79%) |
| Close sighted | Mõnikord (5–29%) |
Abnormality of prenatal development or birth
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| High levels of amniotic fluid | Sageli (30–79%) |
Abnormality of the breast
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Enlarged male breast | Väga sageli (80–99%) |
Abnormality of the immune system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Recurrent chest infections | Mõnikord (5–29%) |
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 SOX9 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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