Traits

Traits linked to SOX3

SRY-box transcription factor 3

The Human Phenotype Ontology links 69 traits to SOX3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Hypopituitarism	Visada
Decreased circulating insulin-like growth factor 1 concentration	Labai dažnai (80–99%)
Decreased function of male gonad	Labai dažnai (80–99%)
Decreased response to growth hormone stimulation test	Labai dažnai (80–99%)
Abnormal prolactin level	Dažnai (30–79%)
Abnormality of the hypothalamus-pituitary axis	Dažnai (30–79%)
Decreased circulating ACTH concentration	Dažnai (30–79%)
Hypogonadotropic hypogonadism	Dažnai (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Dažnai (30–79%)
Underdeveloped pituitary gland	Dažnai (30–79%)
Absence of secondary sex characteristics	Kartais (5–29%)
Delayed puberty	Kartais (5–29%)
Diabetes insipidus	Kartais (5–29%)
Ectopic posterior pituitary	Kartais (5–29%)
Ectopic anterior pituitary gland	Retai (1–4 %)
Panhypopituitarism	Neužfiksuota
Underactive thyroid	Neužfiksuota

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Intellectual disability	Labai dažnai (80–99%)
Absent septum pellucidum	Dažnai (30–79%)
Agenesis of corpus callosum	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Paralysis or weakness of one side of body	Dažnai (30–79%)
Abnormal myelination	Kartais (5–29%)
Absent/small cerebellum	Kartais (5–29%)
Autism	Kartais (5–29%)
Difficulty sleeping	Kartais (5–29%)
Extreme thirst	Kartais (5–29%)
Global developmental delay	Kartais (5–29%)
Mild global developmental delay	Kartais (5–29%)
Underdevelopment of part of brain called corpus callosum	Kartais (5–29%)
Intellectual disability, mild	Neužfiksuota

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Optic nerve hypoplasia	Labai dažnai (80–99%)
Septo-optic dysplasia	Labai dažnai (80–99%)
Visual impairment	Labai dažnai (80–99%)
Cross-eyed	Dažnai (30–79%)
Involuntary, rapid, rhythmic eye movements	Dažnai (30–79%)
Abnormal saccadic eye movements	Kartais (5–29%)
Gaze-evoked horizontal nystagmus	Kartais (5–29%)
Oculomotor apraxia	Kartais (5–29%)

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Ambiguous external genitalia	Labai dažnai (80–99%)
Decreased testicular size	Labai dažnai (80–99%)
Polycystic ovaries	Labai dažnai (80–99%)
Abnormal absence of menstruation	Dažnai (30–79%)
Infertility	Dažnai (30–79%)
Underdeveloped penis	Dažnai (30–79%)
Undescended testes	Dažnai (30–79%)

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Cleft palate	Dažnai (30–79%)
Flat nose	Dažnai (30–79%)
Lost smell	Kartais (5–29%)
Small posterior fossa	Kartais (5–29%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Short stature	Labai dažnai (80–99%)
Growth delay	Dažnai (30–79%)
Obesity	Kartais (5–29%)
Pituitary dwarfism	Kartais (5–29%)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Abnormal connection between trachea and esophagus	Kartais (5–29%)
Birth defect in which part of esophagus did not develop	Kartais (5–29%)
Constipation	Kartais (5–29%)

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Abnormality of secondary sexual hair	Dažnai (30–79%)
Decreased ability to sweat	Kartais (5–29%)
Dry skin	Kartais (5–29%)

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Delayed bone maturation	Kartais (5–29%)
Osteopenia	Kartais (5–29%)
Osteoporosis of vertebrae	Kartais (5–29%)

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Low blood pressure	Dažnai (30–79%)
Abnormal cardiovascular system morphology	Kartais (5–29%)

Abnormality of the breast

Trait	Kaip dažnai pasireiškia
Absent/small breasts	Dažnai (30–79%)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Sensorineural hearing impairment	Kartais (5–29%)

Constitutional symptom

Trait	Kaip dažnai pasireiškia
Fatigue	Dažnai (30–79%)

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Low blood sugar	Dažnai (30–79%)

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

The Human Phenotype Ontology, release 2026-09-01: the traits linked to SOX3 and how often each is seen. Find out more at hpo.jax.org.

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