Požymiai

Su ZEB2 susiję požymiai

zinc finger E-box binding homeobox 2

Žmogaus fenotipo ontologija sieja 193 požymių su ZEB2, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

ZEB2

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Delayed speech and language development	Visada
Intellectual disability, severe	Visada
Absent speech development	Labai dažnai (80–99%)
Communication delay	Labai dažnai (80–99%)
Happy demeanor	Labai dažnai (80–99%)
Intellectual disability	Labai dažnai (80–99%)
Abnormal corpus callosum morphology	Dažnai (30–79%)
Abnormal hippocampus morphology	Dažnai (30–79%)
Abnormality of the nervous system	Dažnai (30–79%)
Absent/small cerebral white matter	Dažnai (30–79%)
Agenesis of corpus callosum	Dažnai (30–79%)
Atypical absence seizure	Dažnai (30–79%)
Delayed ability to walk	Dažnai (30–79%)
Difficulty sleeping	Dažnai (30–79%)
EEG abnormality	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Hypoplastic anterior commissure	Dažnai (30–79%)
Lateral ventricle dilatation	Dažnai (30–79%)
Poor fine motor coordination	Dažnai (30–79%)
Repetitive movements	Dažnai (30–79%)
Seizure affecting one half of brain	Dažnai (30–79%)
Underdevelopment of part of brain called corpus callosum	Dažnai (30–79%)
Wide based walk	Dažnai (30–79%)
Behavioral abnormality	Kartais (5–29%)
Cerebral white matter hypoplasia	Kartais (5–29%)
Focal hypointensity of cerebral white matter on MRI	Kartais (5–29%)
Headache	Kartais (5–29%)
Impaired pain sensation	Kartais (5–29%)
Inability to walk	Kartais (5–29%)
Increased reflexes	Kartais (5–29%)
Large basal ganglia	Kartais (5–29%)
Neurodevelopmental delay	Kartais (5–29%)
Pressure on spinal cord	Kartais (5–29%)
Rise in pressure inside skull	Kartais (5–29%)
Teeth grinding	Kartais (5–29%)
Too much cerebrospinal fluid in the brain	Kartais (5–29%)
Agenesis of cerebellar vermis	Retai (1–4 %)
Cerebellar vermis hypoplasia	Retai (1–4 %)
Chiari type I malformation	Retai (1–4 %)
Enlarged cerebellum	Retai (1–4 %)
More grooves in brain	Retai (1–4 %)
Periventricular heterotopia	Retai (1–4 %)
Poor speech	Retai (1–4 %)
Small cerebellum	Retai (1–4 %)
Motor delay	Neužfiksuota
Ventriculomegaly	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Abnormal dental position	Visada
Low hanging columella	Visada
Abnormal facial shape	Labai dažnai (80–99%)
Abnormally small head	Dažnai (30–79%)
Beaked nose	Dažnai (30–79%)
Big lower jaw	Dažnai (30–79%)
Broad eyebrow	Dažnai (30–79%)
Corners of eye widely separated	Dažnai (30–79%)
Delayed eruption of teeth	Dažnai (30–79%)
Depressed nasal tip	Dažnai (30–79%)
Development of small head that was not present at birth	Dažnai (30–79%)
Full lower lip	Dažnai (30–79%)
Open mouth	Dažnai (30–79%)
Pointed chin	Dažnai (30–79%)
Short philtrum	Dažnai (30–79%)
Wide nasal bridge	Dažnai (30–79%)
Abnormal jaw morphology	Kartais (5–29%)
Abnormal posterior cranial fossa morphology	Kartais (5–29%)
Abnormality of dental shape	Kartais (5–29%)
Dental crowding	Kartais (5–29%)
Frontal bossing	Kartais (5–29%)
Gum enlargement	Kartais (5–29%)
Small head present at birth	Kartais (5–29%)
Bifid uvula	Retai (1–4 %)
Boxer's nasal deformity	Retai (1–4 %)
Cleft hard palate	Retai (1–4 %)
Cleft palate	Retai (1–4 %)
Eye folds	Retai (1–4 %)
Highly arched eyebrow	Retai (1–4 %)
Right unicoronal synostosis	Retai (1–4 %)
Submucous cleft of soft and hard palate	Retai (1–4 %)
Downward slanting of the opening between the eyelids	Neužfiksuota
Drooling	Neužfiksuota
Prominent nasal tip	Neužfiksuota
Submucous cleft hard palate	Neužfiksuota
Widely spaced teeth	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Cross-eyed	Dažnai (30–79%)
Deeply set eye	Dažnai (30–79%)
Abnormal eye structure	Kartais (5–29%)
Abnormality of refraction	Kartais (5–29%)
Abnormality of the eye	Kartais (5–29%)
Abnormality of the pupil	Kartais (5–29%)
Abnormally small eyeball	Kartais (5–29%)
Astigmatism	Kartais (5–29%)
Axenfeld anomaly	Kartais (5–29%)
Cat eye	Kartais (5–29%)
Close sighted	Kartais (5–29%)
Clouding of the lens of the eye	Kartais (5–29%)
Cornea of eye less than 10mm in diameter	Kartais (5–29%)
Displaced pupil	Kartais (5–29%)
Drooping upper eyelid	Kartais (5–29%)
Hole in the back of the eye	Kartais (5–29%)
Iris degeneration	Kartais (5–29%)
Optic atrophy	Kartais (5–29%)
Visual impairment	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Neužfiksuota
Inward turning cross eyed	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormality of the genitourinary system	Dažnai (30–79%)
Abnormality of the reproductive system	Dažnai (30–79%)
Hypospadias	Dažnai (30–79%)
Loss of bladder control	Dažnai (30–79%)
Undescended testes	Dažnai (30–79%)
Abnormality of the kidney	Kartais (5–29%)
Hydronephrosis	Kartais (5–29%)
Multicystic kidney dysplasia	Kartais (5–29%)
Pelvic kidney	Kartais (5–29%)
Vesicoureteral reflux	Kartais (5–29%)
Chordee	Retai (1–4 %)
Cleft of scrotum	Retai (1–4 %)
Double vagina	Retai (1–4 %)
Hydrocele testis	Retai (1–4 %)
Short penis	Retai (1–4 %)
Webbed penis	Retai (1–4 %)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Abnormality of the heart	Dažnai (30–79%)
Abnormal pulmonary valve morphology	Kartais (5–29%)
Abnormality of lung artery	Kartais (5–29%)
Absent spleen	Kartais (5–29%)
Aortic valve has two leaflets rather than three	Kartais (5–29%)
Narrowing of aorta	Kartais (5–29%)
Narrowing of aortic valve	Kartais (5–29%)
Narrowing of pulmonic valve	Kartais (5–29%)
Tetralogy of Fallot	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Retai (1–4 %)
Patent ductus arteriosus	Retai (1–4 %)
Pulmonary artery sling	Retai (1–4 %)
An opening in the wall separating the top two chambers of the heart	Neužfiksuota
Narrowing of lung artery	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Decreased muscle tone in infant	Dažnai (30–79%)
Generalized decreased muscle tone	Dažnai (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Dažnai (30–79%)
Low muscle tone	Dažnai (30–79%)
Delayed bone maturation	Kartais (5–29%)
Flexed joint that cannot be straightened	Kartais (5–29%)
Funnel chest	Kartais (5–29%)
Permanent flexion of the finger or toe	Kartais (5–29%)
Pigeon chest	Kartais (5–29%)
Scoliosis	Kartais (5–29%)
Hypophosphatemic rickets	Retai (1–4 %)
Generalized increase in muscle cell size	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Broad big toe	Kartais (5–29%)
Bunion	Kartais (5–29%)
Dropped arches	Kartais (5–29%)
Foot and ankle bend up toward shin of leg	Kartais (5–29%)
Inward turned thumb	Kartais (5–29%)
Knock knees	Kartais (5–29%)
Long big toe	Kartais (5–29%)
Long slender fingers	Kartais (5–29%)
Long toe	Kartais (5–29%)
Ulnar deviation of the hand	Kartais (5–29%)
Webbed fingers or toes	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Enlarged colon lacking nerve cells	Dažnai (30–79%)
Loss of bowel control	Dažnai (30–79%)
Constipation	Kartais (5–29%)
Episodic vomiting	Kartais (5–29%)
Extra kidney	Kartais (5–29%)
Pyloric stenosis	Kartais (5–29%)
Duplication of renal pelvis	Retai (1–4 %)
Poor swallowing	Retai (1–4 %)
Abdominal bloating	Neužfiksuota
Abnormal enteric ganglion morphology	Neužfiksuota
Vomiting	Neužfiksuota

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Abnormal skin pigmentation	Labai dažnai (80–99%)
Giant pigmented mole	Labai dažnai (80–99%)
Mole	Labai dažnai (80–99%)
Dry skin	Dažnai (30–79%)
Lack of sweating	Dažnai (30–79%)
Poor wound healing	Dažnai (30–79%)
Cutaneous melanoma	Kartais (5–29%)
Excessive hair growth	Kartais (5–29%)
Firm lump under the skin	Kartais (5–29%)
Itching	Kartais (5–29%)
Patchy loss of skin color	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Ears rotated toward back of head	Dažnai (30–79%)
Recurrent middle ear infection	Dažnai (30–79%)
Uplifted earlobe	Dažnai (30–79%)
Sensorineural hearing impairment	Retai (1–4 %)
Cupped ear	Neužfiksuota
Large earlobe	Neužfiksuota

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Dažnai (30–79%)
Short stature	Dažnai (30–79%)

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Decreased circulating antibody level	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Hyphema	Retai (1–4 %)

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Accessory nipple	Neužfiksuota

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Premature breast development	Retai (1–4 %)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Recurrent infections	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Narrowing of windpipe	Retai (1–4 %)

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 ZEB2 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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