Požymiai

Su SOX9 susiję požymiai

SRY-box transcription factor 9

Žmogaus fenotipo ontologija sieja 177 požymių su SOX9, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

SOX9

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Absent sperm in semen	Visada
Hypospadias	Visada
Infertility	Visada
Non-obstructive azoospermia	Visada
Sex reversal	Visada
Abnormal internal genitalia	Labai dažnai (80–99%)
Abnormal labia morphology	Labai dažnai (80–99%)
Abnormal male internal genitalia morphology	Labai dažnai (80–99%)
Abnormal morphology of female internal genitalia	Labai dažnai (80–99%)
Abnormal scrotal rugation	Labai dažnai (80–99%)
Abnormal scrotum morphology	Labai dažnai (80–99%)
Abnormal sex determination	Labai dažnai (80–99%)
Abnormal vagina morphology	Labai dažnai (80–99%)
Abnormality of the uterus	Labai dažnai (80–99%)
Ambiguous external genitalia	Labai dažnai (80–99%)
Cleft of scrotum	Labai dažnai (80–99%)
Decreased fertility	Labai dažnai (80–99%)
Decreased fertility in females	Labai dažnai (80–99%)
Decreased testicular size	Labai dažnai (80–99%)
Dysplastic testis	Labai dažnai (80–99%)
Enlarged clitoris	Labai dažnai (80–99%)
Female external genitalia in individual with 46,XY karyotype	Labai dažnai (80–99%)
Gonadal dysgenesis	Labai dažnai (80–99%)
Male infertility	Labai dažnai (80–99%)
Male pseudohermaphroditism	Labai dažnai (80–99%)
Ovotestis	Labai dažnai (80–99%)
Polycystic ovaries	Labai dažnai (80–99%)
Primary amenorrhea	Labai dažnai (80–99%)
Short penis	Labai dažnai (80–99%)
Smaller than typical growth of scrotum	Labai dažnai (80–99%)
Streak ovary	Labai dažnai (80–99%)
True hermaphroditism	Labai dažnai (80–99%)
Underdeveloped penis	Labai dažnai (80–99%)
Underdeveloped vagina	Labai dažnai (80–99%)
Undescended testes	Labai dažnai (80–99%)
Urogenital sinus anomaly	Labai dažnai (80–99%)
Vanishing testis	Labai dažnai (80–99%)
Gonadoblastoma	Dažnai (30–79%)
Perineal hypospadias	Dažnai (30–79%)
Hydronephrosis	Kartais (5–29%)
Ovarian gonadoblastoma	Kartais (5–29%)
Testicular gonadoblastoma	Kartais (5–29%)
Nephroblastoma	Retai (1–4 %)
Nephrotic syndrome	Retai (1–4 %)
Dysgerminoma	Neužfiksuota
Small uterus	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Depressed nasal bridge	Visada
Little lower jaw	Visada
Midface retrusion	Visada
Big calvaria	Labai dažnai (80–99%)
Cleft palate	Labai dažnai (80–99%)
Flat face	Labai dažnai (80–99%)
Retraction of the tongue	Labai dažnai (80–99%)
Short neck	Labai dažnai (80–99%)
Relatively large head	Dažnai (30–79%)
Abnormality of the sense of smell	Kartais (5–29%)
Blockage of the rear opening of the nasal cavity	Kartais (5–29%)
Dental cavities	Kartais (5–29%)
Eye folds	Kartais (5–29%)
Frontal bossing	Kartais (5–29%)
High palate	Kartais (5–29%)
Irregular teeth	Kartais (5–29%)
Long philtrum	Kartais (5–29%)
Narrow mouth	Kartais (5–29%)
Recurrent colds	Kartais (5–29%)
Submucous cleft hard palate	Kartais (5–29%)
Flat nose	Neužfiksuota
High forehead	Neužfiksuota
Narrow opening between the eyelids	Neužfiksuota
Short opening between the eyelids	Neužfiksuota
Small face	Neužfiksuota
Wider-than-typical soft spot of skull	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Cervical spine instability	Visada
Rounded neck	Visada
11 pairs of ribs	Labai dažnai (80–99%)
Hypoplastic inferior ilia	Labai dažnai (80–99%)
Narrow chest	Labai dažnai (80–99%)
Osteoporosis	Labai dažnai (80–99%)
Poorly ossified cervical vertebrae	Labai dažnai (80–99%)
Recurrent fractures	Labai dažnai (80–99%)
Scoliosis	Labai dažnai (80–99%)
Short long bone	Labai dažnai (80–99%)
Small abnormally formed shoulder blade	Labai dažnai (80–99%)
Kyphoscoliosis	Dažnai (30–79%)
Small shoulder blade	Dažnai (30–79%)
Delayed bone maturation	Kartais (5–29%)
Delayed maturation of end part of long bone	Kartais (5–29%)
Double-Jointed	Kartais (5–29%)
Hunched back	Kartais (5–29%)
Low muscle tone	Kartais (5–29%)
Narrow iliac wing	Kartais (5–29%)
Pigeon chest	Kartais (5–29%)
Thoracic scoliosis	Kartais (5–29%)
Absent bone maturation in sternum	Neužfiksuota
Hypoplastic cervical vertebrae	Neužfiksuota
Hypoplastic iliac wing	Neužfiksuota
Small chest	Neužfiksuota
Thin ribs	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Bowed shankbone	Labai dažnai (80–99%)
Bowing of the long bones	Labai dažnai (80–99%)
Hip dislocation	Labai dažnai (80–99%)
Short calf bone	Labai dažnai (80–99%)
Bowed thighbone	Dažnai (30–79%)
Club feet	Dažnai (30–79%)
Club foot on both sides	Dažnai (30–79%)
Dislocated radial head	Dažnai (30–79%)
Shortened 1st long bone of hand	Dažnai (30–79%)
Small kneecap	Dažnai (30–79%)
Anterior tibial bowing	Kartais (5–29%)
Bunion	Kartais (5–29%)
Contracture of the distal interphalangeal joint of the fingers	Kartais (5–29%)
Dropped arches	Kartais (5–29%)
Front half of foot turns inward	Kartais (5–29%)
Short finger bones	Kartais (5–29%)
Short toe bones	Neužfiksuota
Shortening of all finger bones	Neužfiksuota

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Floppy windpipe	Labai dažnai (80–99%)
Respiratory function loss	Labai dažnai (80–99%)
Softening of voice box tissue	Labai dažnai (80–99%)
Tracheobronchomalacia	Labai dažnai (80–99%)
Apnea	Dažnai (30–79%)
Low blood oxygen level	Dažnai (30–79%)
Neonatal respiratory distress	Dažnai (30–79%)
Noisy breathing	Dažnai (30–79%)
Upper airway obstruction	Dažnai (30–79%)
Bronchomalacia	Kartais (5–29%)
Narrowing of windpipe	Kartais (5–29%)
Subglottic stenosis	Kartais (5–29%)
Breathing difficulties	Neužfiksuota

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Decreased serum testosterone level	Visada
Elevated circulating follicle stimulating hormone level	Visada
Elevated circulating luteinizing hormone level	Visada
Decreased function of male gonad	Labai dažnai (80–99%)
Decreased serum estradiol	Labai dažnai (80–99%)
Hypergonadotropic hypogonadism	Labai dažnai (80–99%)
Hypogonadotropic hypogonadism	Labai dažnai (80–99%)
Increased circulating gonadotropin level	Labai dažnai (80–99%)
Delayed puberty	Dažnai (30–79%)
Absence of secondary sex characteristics	Kartais (5–29%)
Adrenal insufficiency	Kartais (5–29%)
Primary gonadal insufficiency	Kartais (5–29%)

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Epilepsy	Kartais (5–29%)
Global developmental delay	Kartais (5–29%)
Hypoplasia of olfactory tract	Kartais (5–29%)
Mild global developmental delay	Kartais (5–29%)
Moderate global developmental delay	Kartais (5–29%)
Pauses in breathing while sleeping	Kartais (5–29%)
Spinal dysraphism	Kartais (5–29%)
Split spine	Kartais (5–29%)
Ventriculomegaly	Kartais (5–29%)
Too much cerebrospinal fluid in the brain	Neužfiksuota

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Limited armpit hair	Labai dažnai (80–99%)
Sparse pubic hair	Labai dažnai (80–99%)
Pretibial dimple	Dažnai (30–79%)
Skin dimple	Dažnai (30–79%)
Blue discoloration of the skin	Kartais (5–29%)
Short nail	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Abnormal cardiovascular system morphology	Kartais (5–29%)
Cor pulmonale	Kartais (5–29%)
increased pulmonary artery pressure	Kartais (5–29%)
Abnormality of the heart	Neužfiksuota

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Dažnai (30–79%)
Short stature	Dažnai (30–79%)
Disproportionate short-limb short stature	Neužfiksuota
Neonatal short-limb short stature	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Feeding difficulties in infancy	Dažnai (30–79%)
Feeding difficulties	Kartais (5–29%)
Poor swallowing	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Conductive deafness	Dažnai (30–79%)
Low-set ears	Dažnai (30–79%)
Hearing impairment	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Wide-set eyes	Labai dažnai (80–99%)
Bulging eye	Dažnai (30–79%)
Close sighted	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
High levels of amniotic fluid	Dažnai (30–79%)

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Enlarged male breast	Labai dažnai (80–99%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Recurrent chest infections	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 SOX9 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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