Požymiai

Su ACTB susiję požymiai

actin beta

Žmogaus fenotipo ontologija sieja 151 požymį su ACTB: tai požymis, pastebimas žmonėms, sergantiems viena iš šio geno retųjų ligų.

ACTB

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Kyphoscoliosis	Visada
Small shoulder blade	Visada
Abnormal skeletal development	Labai dažnai (80–99%)
Hunched back	Labai dažnai (80–99%)
Loss of fat tissue in localized area	Labai dažnai (80–99%)
Osteochondrosis	Labai dažnai (80–99%)
Scoliosis	Labai dažnai (80–99%)
Funnel chest	Dažnai (30–79%)
Joint stiffness	Dažnai (30–79%)
Pigeon chest	Dažnai (30–79%)
Extra ribs	Kartais (5–29%)
Rib fusion	Kartais (5–29%)
Cervical ribs	Neužfiksuota
Generalized decreased muscle tone	Neužfiksuota
Low muscle tone	Neužfiksuota
Missing part of vertebrae	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Cat eye	Labai dažnai (80–99%)
Drooping upper eyelid	Labai dažnai (80–99%)
Wide-set eyes	Labai dažnai (80–99%)
Blindness	Dažnai (30–79%)
Clouding of the lens of the eye	Dažnai (30–79%)
Deeply set eye	Dažnai (30–79%)
Different colored eyes	Dažnai (30–79%)
Retinoschisis	Dažnai (30–79%)
Abnormally small eyeball	Kartais (5–29%)
Cornea of eye less than 10mm in diameter	Kartais (5–29%)
Optic disc coloboma	Kartais (5–29%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Asymmetric overgrowth	Visada
Externally rotated hips	Visada
Shoulder girdle muscle wasting	Labai dažnai (80–99%)
Smaller or shorter than typical limbs	Labai dažnai (80–99%)
Abnormality of the shankbone	Kartais (5–29%)
Duplication of big toe bone	Kartais (5–29%)
Duplication of thumb phalanx	Kartais (5–29%)
Left and right leg differ in length or width	Kartais (5–29%)
Overlapping toe	Kartais (5–29%)
Unequal size of arms	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormality of the upper urinary tract	Dažnai (30–79%)
Hydronephrosis	Dažnai (30–79%)
Hydroureter	Dažnai (30–79%)
Abnormal scrotum morphology	Kartais (5–29%)
Underdeveloped inner lips	Kartais (5–29%)
Short penis	Neužfiksuota
Undescended testes	Neužfiksuota

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Sensorineural hearing impairment	Visada
Ears rotated toward back of head	Kartais (5–29%)
Hearing impairment	Kartais (5–29%)
Overfolded ears	Kartais (5–29%)
Small ears	Kartais (5–29%)
Low-set ears	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Ventricular arrhythmia	Visada
Mini stroke	Kartais (5–29%)
Patent ductus arteriosus	Kartais (5–29%)
Aortic valve has two leaflets rather than three	Neužfiksuota
Narrowing of aortic valve	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Achalasia	Visada
Poor swallowing	Visada
Pseudobulbar paralysis	Visada
Feeding difficulties	Labai dažnai (80–99%)
Umbilical hernia	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Small for gestational age	Visada
Faltering weight	Labai dažnai (80–99%)
Growth delay	Labai dažnai (80–99%)
Short stature	Labai dažnai (80–99%)
Growth delay as children	Neužfiksuota

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Large platelets	Visada
Low platelet count	Visada
Platelet anisocytosis	Visada

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Accessory nipple	Labai dažnai (80–99%)
Absent/small breasts	Dažnai (30–79%)
One underdeveloped breast	Neužfiksuota

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Excessive hair growth	Visada
Hyperpigmented skin patches	Labai dažnai (80–99%)
Mole	Neužfiksuota

Abnormal tissue mass

Požymis	Kaip dažnai pasireiškia
Hamartoma	Visada

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
High levels of amniotic fluid	Visada

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Decreased immune function	Labai dažnai (80–99%)

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

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