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	Kui sageli seda täheldatakse
Hypopituitarism	Alati
Decreased circulating insulin-like growth factor 1 concentration	Väga sageli (80–99%)
Decreased function of male gonad	Väga sageli (80–99%)
Decreased response to growth hormone stimulation test	Väga sageli (80–99%)
Abnormal prolactin level	Sageli (30–79%)
Abnormality of the hypothalamus-pituitary axis	Sageli (30–79%)
Decreased circulating ACTH concentration	Sageli (30–79%)
Hypogonadotropic hypogonadism	Sageli (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Sageli (30–79%)
Underdeveloped pituitary gland	Sageli (30–79%)
Absence of secondary sex characteristics	Mõnikord (5–29%)
Delayed puberty	Mõnikord (5–29%)
Diabetes insipidus	Mõnikord (5–29%)
Ectopic posterior pituitary	Mõnikord (5–29%)
Ectopic anterior pituitary gland	Harva (1–4%)
Panhypopituitarism	Pole registreeritud
Underactive thyroid	Pole registreeritud

Abnormality of the nervous system

Trait	Kui sageli seda täheldatakse
Intellectual disability	Väga sageli (80–99%)
Absent septum pellucidum	Sageli (30–79%)
Agenesis of corpus callosum	Sageli (30–79%)
Epilepsy	Sageli (30–79%)
Paralysis or weakness of one side of body	Sageli (30–79%)
Abnormal myelination	Mõnikord (5–29%)
Absent/small cerebellum	Mõnikord (5–29%)
Autism	Mõnikord (5–29%)
Difficulty sleeping	Mõnikord (5–29%)
Extreme thirst	Mõnikord (5–29%)
Global developmental delay	Mõnikord (5–29%)
Mild global developmental delay	Mõnikord (5–29%)
Underdevelopment of part of brain called corpus callosum	Mõnikord (5–29%)
Intellectual disability, mild	Pole registreeritud

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Optic nerve hypoplasia	Väga sageli (80–99%)
Septo-optic dysplasia	Väga sageli (80–99%)
Visual impairment	Väga sageli (80–99%)
Cross-eyed	Sageli (30–79%)
Involuntary, rapid, rhythmic eye movements	Sageli (30–79%)
Abnormal saccadic eye movements	Mõnikord (5–29%)
Gaze-evoked horizontal nystagmus	Mõnikord (5–29%)
Oculomotor apraxia	Mõnikord (5–29%)

Abnormality of the genitourinary system

Trait	Kui sageli seda täheldatakse
Ambiguous external genitalia	Väga sageli (80–99%)
Decreased testicular size	Väga sageli (80–99%)
Polycystic ovaries	Väga sageli (80–99%)
Abnormal absence of menstruation	Sageli (30–79%)
Infertility	Sageli (30–79%)
Underdeveloped penis	Sageli (30–79%)
Undescended testes	Sageli (30–79%)

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Cleft palate	Sageli (30–79%)
Flat nose	Sageli (30–79%)
Lost smell	Mõnikord (5–29%)
Small posterior fossa	Mõnikord (5–29%)

Growth abnormality

Trait	Kui sageli seda täheldatakse
Short stature	Väga sageli (80–99%)
Growth delay	Sageli (30–79%)
Obesity	Mõnikord (5–29%)
Pituitary dwarfism	Mõnikord (5–29%)

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Abnormal connection between trachea and esophagus	Mõnikord (5–29%)
Birth defect in which part of esophagus did not develop	Mõnikord (5–29%)
Constipation	Mõnikord (5–29%)

Abnormality of the integument

Trait	Kui sageli seda täheldatakse
Abnormality of secondary sexual hair	Sageli (30–79%)
Decreased ability to sweat	Mõnikord (5–29%)
Dry skin	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Delayed bone maturation	Mõnikord (5–29%)
Osteopenia	Mõnikord (5–29%)
Osteoporosis of vertebrae	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
Low blood pressure	Sageli (30–79%)
Abnormal cardiovascular system morphology	Mõnikord (5–29%)

Abnormality of the breast

Trait	Kui sageli seda täheldatakse
Absent/small breasts	Sageli (30–79%)

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Sensorineural hearing impairment	Mõnikord (5–29%)

Constitutional symptom

Trait	Kui sageli seda täheldatakse
Fatigue	Sageli (30–79%)

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
Low blood sugar	Sageli (30–79%)

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

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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