Tunnused

Geeniga ZEB2 seotud tunnused

zinc finger E-box binding homeobox 2

Inimese fenotüübi ontoloogia seostab geeniga ZEB2 193 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

ZEB2

Abnormality of the nervous system

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

Abnormality of head or neck

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

Abnormality of the eye

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

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the genitourinary system	Sageli (30–79%)
Abnormality of the reproductive system	Sageli (30–79%)
Hypospadias	Sageli (30–79%)
Loss of bladder control	Sageli (30–79%)
Undescended testes	Sageli (30–79%)
Abnormality of the kidney	Mõnikord (5–29%)
Hydronephrosis	Mõnikord (5–29%)
Multicystic kidney dysplasia	Mõnikord (5–29%)
Pelvic kidney	Mõnikord (5–29%)
Vesicoureteral reflux	Mõnikord (5–29%)
Chordee	Harva (1–4%)
Cleft of scrotum	Harva (1–4%)
Double vagina	Harva (1–4%)
Hydrocele testis	Harva (1–4%)
Short penis	Harva (1–4%)
Webbed penis	Harva (1–4%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the heart	Sageli (30–79%)
Abnormal pulmonary valve morphology	Mõnikord (5–29%)
Abnormality of lung artery	Mõnikord (5–29%)
Absent spleen	Mõnikord (5–29%)
Aortic valve has two leaflets rather than three	Mõnikord (5–29%)
Narrowing of aorta	Mõnikord (5–29%)
Narrowing of aortic valve	Mõnikord (5–29%)
Narrowing of pulmonic valve	Mõnikord (5–29%)
Tetralogy of Fallot	Mõnikord (5–29%)
Hole in heart wall separating two lower heart chambers	Harva (1–4%)
Patent ductus arteriosus	Harva (1–4%)
Pulmonary artery sling	Harva (1–4%)
An opening in the wall separating the top two chambers of the heart	Pole registreeritud
Narrowing of lung artery	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Decreased muscle tone in infant	Sageli (30–79%)
Generalized decreased muscle tone	Sageli (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sageli (30–79%)
Low muscle tone	Sageli (30–79%)
Delayed bone maturation	Mõnikord (5–29%)
Flexed joint that cannot be straightened	Mõnikord (5–29%)
Funnel chest	Mõnikord (5–29%)
Permanent flexion of the finger or toe	Mõnikord (5–29%)
Pigeon chest	Mõnikord (5–29%)
Scoliosis	Mõnikord (5–29%)
Hypophosphatemic rickets	Harva (1–4%)
Generalized increase in muscle cell size	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Broad big toe	Mõnikord (5–29%)
Bunion	Mõnikord (5–29%)
Dropped arches	Mõnikord (5–29%)
Foot and ankle bend up toward shin of leg	Mõnikord (5–29%)
Inward turned thumb	Mõnikord (5–29%)
Knock knees	Mõnikord (5–29%)
Long big toe	Mõnikord (5–29%)
Long slender fingers	Mõnikord (5–29%)
Long toe	Mõnikord (5–29%)
Ulnar deviation of the hand	Mõnikord (5–29%)
Webbed fingers or toes	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Enlarged colon lacking nerve cells	Sageli (30–79%)
Loss of bowel control	Sageli (30–79%)
Constipation	Mõnikord (5–29%)
Episodic vomiting	Mõnikord (5–29%)
Extra kidney	Mõnikord (5–29%)
Pyloric stenosis	Mõnikord (5–29%)
Duplication of renal pelvis	Harva (1–4%)
Poor swallowing	Harva (1–4%)
Abdominal bloating	Pole registreeritud
Abnormal enteric ganglion morphology	Pole registreeritud
Vomiting	Pole registreeritud

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Abnormal skin pigmentation	Väga sageli (80–99%)
Giant pigmented mole	Väga sageli (80–99%)
Mole	Väga sageli (80–99%)
Dry skin	Sageli (30–79%)
Lack of sweating	Sageli (30–79%)
Poor wound healing	Sageli (30–79%)
Cutaneous melanoma	Mõnikord (5–29%)
Excessive hair growth	Mõnikord (5–29%)
Firm lump under the skin	Mõnikord (5–29%)
Itching	Mõnikord (5–29%)
Patchy loss of skin color	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Ears rotated toward back of head	Sageli (30–79%)
Recurrent middle ear infection	Sageli (30–79%)
Uplifted earlobe	Sageli (30–79%)
Sensorineural hearing impairment	Harva (1–4%)
Cupped ear	Pole registreeritud
Large earlobe	Pole registreeritud

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Sageli (30–79%)
Short stature	Sageli (30–79%)

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Decreased circulating antibody level	Mõnikord (5–29%)

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Hyphema	Harva (1–4%)

Abnormality of the breast

Tunnus	Kui sageli seda täheldatakse
Accessory nipple	Pole registreeritud

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Premature breast development	Harva (1–4%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Recurrent infections	Mõnikord (5–29%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Narrowing of windpipe	Harva (1–4%)

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 ZEB2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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