Tunnused

Geeniga ACTB seotud tunnused

actin beta

Inimese fenotüübi ontoloogia seostab geeniga ACTB 151 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

ACTB

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Cleft palate	Alati
Cleft upper lip	Alati
High forehead	Alati
Prominent metopic ridge	Alati
Thin red part of the upper lip	Alati
Abnormally large tongue	Väga sageli (80–99%)
Broad nasal tip	Väga sageli (80–99%)
Broad opening between the eyelids	Väga sageli (80–99%)
Cleft of the mouth	Väga sageli (80–99%)
Coarse facial features	Väga sageli (80–99%)
Corners of eye widely separated	Väga sageli (80–99%)
Decreased volume of lip	Väga sageli (80–99%)
Depressed nasal tip	Väga sageli (80–99%)
Downward slanting of the opening between the eyelids	Väga sageli (80–99%)
Euryblepharon	Väga sageli (80–99%)
Eye folds	Väga sageli (80–99%)
Full cheeks	Väga sageli (80–99%)
Highly arched eyebrow	Väga sageli (80–99%)
Horizontal eyebrow	Väga sageli (80–99%)
Little lower jaw	Väga sageli (80–99%)
Long philtrum	Väga sageli (80–99%)
Pointed chin	Väga sageli (80–99%)
Receding chin	Väga sageli (80–99%)
Short columella	Väga sageli (80–99%)
Wide mouth	Väga sageli (80–99%)
Wide nasal bridge	Väga sageli (80–99%)
Wide nose	Väga sageli (80–99%)
Abnormally small head	Sageli (30–79%)
Broad eyebrow	Sageli (30–79%)
Delayed cranial suture closure	Sageli (30–79%)
Long nose	Sageli (30–79%)
Low hairline at back of neck	Sageli (30–79%)
Monobrow	Sageli (30–79%)
Prominent nose	Sageli (30–79%)
Short neck	Sageli (30–79%)
Triangular head shape	Sageli (30–79%)
Upward slanting of the opening between the eyelids	Sageli (30–79%)
Wide fontanelles	Sageli (30–79%)
Big lower jaw	Mõnikord (5–29%)
Bulbous nose	Mõnikord (5–29%)
Fullness of eyelids	Mõnikord (5–29%)
High palate	Mõnikord (5–29%)
Long eyelashes	Mõnikord (5–29%)
Midface retrusion	Mõnikord (5–29%)
Webbed neck	Mõnikord (5–29%)
Nasal tip, upturned	Pole registreeritud
Short nose	Pole registreeritud

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Difficulty articulating speech	Alati
Generalized dystonia	Alati
Gray matter heterotopia	Alati
Intellectual disability, mild	Alati
Leg dystonia	Alati
Loss of ability to walk	Alati
Mild global developmental delay	Alati
Motor delay	Alati
Oculogyric crisis	Alati
Difficulty finding words	Väga sageli (80–99%)
Echoing another person's speech	Väga sageli (80–99%)
Epilepsy	Väga sageli (80–99%)
Fewer and broader ridges in brain	Väga sageli (80–99%)
Fewer or absent grooves in brain	Väga sageli (80–99%)
Global developmental delay	Väga sageli (80–99%)
Inability to speak	Väga sageli (80–99%)
Intellectual disability	Väga sageli (80–99%)
Mental deterioration	Väga sageli (80–99%)
More grooves in brain	Väga sageli (80–99%)
Specific learning disability	Väga sageli (80–99%)
Cerebral cortical hemiatrophy	Sageli (30–79%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Sageli (30–79%)
Subcortical cerebral atrophy	Sageli (30–79%)
Spina bifida occulta	Mõnikord (5–29%)
Ventriculomegaly	Mõnikord (5–29%)
Agenesis of corpus callosum	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Kyphoscoliosis	Alati
Small shoulder blade	Alati
Abnormal skeletal development	Väga sageli (80–99%)
Hunched back	Väga sageli (80–99%)
Loss of fat tissue in localized area	Väga sageli (80–99%)
Osteochondrosis	Väga sageli (80–99%)
Scoliosis	Väga sageli (80–99%)
Funnel chest	Sageli (30–79%)
Joint stiffness	Sageli (30–79%)
Pigeon chest	Sageli (30–79%)
Extra ribs	Mõnikord (5–29%)
Rib fusion	Mõnikord (5–29%)
Cervical ribs	Pole registreeritud
Generalized decreased muscle tone	Pole registreeritud
Low muscle tone	Pole registreeritud
Missing part of vertebrae	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Cat eye	Väga sageli (80–99%)
Drooping upper eyelid	Väga sageli (80–99%)
Wide-set eyes	Väga sageli (80–99%)
Blindness	Sageli (30–79%)
Clouding of the lens of the eye	Sageli (30–79%)
Deeply set eye	Sageli (30–79%)
Different colored eyes	Sageli (30–79%)
Retinoschisis	Sageli (30–79%)
Abnormally small eyeball	Mõnikord (5–29%)
Cornea of eye less than 10mm in diameter	Mõnikord (5–29%)
Optic disc coloboma	Mõnikord (5–29%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Asymmetric overgrowth	Alati
Externally rotated hips	Alati
Shoulder girdle muscle wasting	Väga sageli (80–99%)
Smaller or shorter than typical limbs	Väga sageli (80–99%)
Abnormality of the shankbone	Mõnikord (5–29%)
Duplication of big toe bone	Mõnikord (5–29%)
Duplication of thumb phalanx	Mõnikord (5–29%)
Left and right leg differ in length or width	Mõnikord (5–29%)
Overlapping toe	Mõnikord (5–29%)
Unequal size of arms	Mõnikord (5–29%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the upper urinary tract	Sageli (30–79%)
Hydronephrosis	Sageli (30–79%)
Hydroureter	Sageli (30–79%)
Abnormal scrotum morphology	Mõnikord (5–29%)
Underdeveloped inner lips	Mõnikord (5–29%)
Short penis	Pole registreeritud
Undescended testes	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Sensorineural hearing impairment	Alati
Ears rotated toward back of head	Mõnikord (5–29%)
Hearing impairment	Mõnikord (5–29%)
Overfolded ears	Mõnikord (5–29%)
Small ears	Mõnikord (5–29%)
Low-set ears	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Ventricular arrhythmia	Alati
Mini stroke	Mõnikord (5–29%)
Patent ductus arteriosus	Mõnikord (5–29%)
Aortic valve has two leaflets rather than three	Pole registreeritud
Narrowing of aortic valve	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Achalasia	Alati
Poor swallowing	Alati
Pseudobulbar paralysis	Alati
Feeding difficulties	Väga sageli (80–99%)
Umbilical hernia	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Small for gestational age	Alati
Faltering weight	Väga sageli (80–99%)
Growth delay	Väga sageli (80–99%)
Short stature	Väga sageli (80–99%)
Growth delay as children	Pole registreeritud

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Large platelets	Alati
Low platelet count	Alati
Platelet anisocytosis	Alati

Abnormality of the breast

Tunnus	Kui sageli seda täheldatakse
Accessory nipple	Väga sageli (80–99%)
Absent/small breasts	Sageli (30–79%)
One underdeveloped breast	Pole registreeritud

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Excessive hair growth	Alati
Hyperpigmented skin patches	Väga sageli (80–99%)
Mole	Pole registreeritud

Abnormal tissue mass

Tunnus	Kui sageli seda täheldatakse
Hamartoma	Alati

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
High levels of amniotic fluid	Alati

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Decreased immune function	Väga sageli (80–99%)

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

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