Požymiai

Su CTCF susiję požymiai

CCCTC-binding factor

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

CTCF

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Decreased volume of lip	Visada
Little lower jaw	Visada
Abnormal dentition	Dažnai (30–79%)
Abnormal facial shape	Dažnai (30–79%)
Abnormally small head	Dažnai (30–79%)
Long eyelashes	Dažnai (30–79%)
Macrodontia of permanent maxillary central incisor	Dažnai (30–79%)
Thick eyebrow	Dažnai (30–79%)
Thin red part of the upper lip	Dažnai (30–79%)
Big lower jaw	Kartais (5–29%)
Broad head shape	Kartais (5–29%)
Broad nasal tip	Kartais (5–29%)
Cleft palate	Kartais (5–29%)
Decreased size of tooth	Kartais (5–29%)
Deformity of the skull	Kartais (5–29%)
Downward slanting of the opening between the eyelids	Kartais (5–29%)
Eye folds	Kartais (5–29%)
High forehead	Kartais (5–29%)
Highly arched eyebrow	Kartais (5–29%)
Increased size of incisor	Kartais (5–29%)
Long philtrum	Kartais (5–29%)
Midface retrusion	Kartais (5–29%)
Monobrow	Kartais (5–29%)
Narrow forehead	Kartais (5–29%)
Narrow mouth	Kartais (5–29%)
Nasal tip, upturned	Kartais (5–29%)
Short columella	Kartais (5–29%)
Short nose	Kartais (5–29%)
Short philtrum	Kartais (5–29%)
Upward slanting of the opening between the eyelids	Kartais (5–29%)
Wide nasal bridge	Kartais (5–29%)
Broad chin	Retai (1–4 %)
Broad opening between the eyelids	Retai (1–4 %)
Coarse facial features	Retai (1–4 %)
Depressed nasal bridge	Retai (1–4 %)
Everted eyelid	Retai (1–4 %)
Hypoplastic philtrum	Retai (1–4 %)
Long face	Retai (1–4 %)
Low hairline at back of neck	Retai (1–4 %)
Low hanging columella	Retai (1–4 %)
Narrow eyelid opening	Retai (1–4 %)
Narrow face	Retai (1–4 %)
Narrow opening between the eyelids	Retai (1–4 %)
Open mouth	Retai (1–4 %)
Pointed chin	Retai (1–4 %)
Prominent brow	Retai (1–4 %)
Prominent forehead	Retai (1–4 %)
Prominent nasal bridge	Retai (1–4 %)
Short chin	Retai (1–4 %)
Small retruded chin	Retai (1–4 %)
Sparse eyebrow	Retai (1–4 %)
Triangular face	Retai (1–4 %)
Wide nasal base	Retai (1–4 %)

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Global developmental delay	Visada
Intellectual disability	Visada
Autism spectrum disorder	Dažnai (30–79%)
Behavioral abnormality	Dažnai (30–79%)
Delayed ability to walk	Dažnai (30–79%)
Delayed speech and language development	Dažnai (30–79%)
Neurodevelopmental delay	Dažnai (30–79%)
Ventriculomegaly	Dažnai (30–79%)
Abnormal temper tantrums	Kartais (5–29%)
Anxiety	Kartais (5–29%)
Attention deficit	Kartais (5–29%)
Difficulty sleeping	Kartais (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Kartais (5–29%)
Aggressive behavior	Retai (1–4 %)
Ataxia	Retai (1–4 %)
Bilateral tonic-clonic seizure with generalized onset	Retai (1–4 %)
Degeneration of cerebellum	Retai (1–4 %)
Degeneration of cerebrum	Retai (1–4 %)
Depression	Retai (1–4 %)
Dystonia	Retai (1–4 %)
Generalized tonic seizure	Retai (1–4 %)
Obsessive compulsive behavior	Retai (1–4 %)
Periventricular leukomalacia	Retai (1–4 %)
Repetitive movements	Retai (1–4 %)
Thin corpus callosum	Retai (1–4 %)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Broad bone of big toe	Dažnai (30–79%)
Curvature of little finger	Dažnai (30–79%)
Gap between 1st and 2nd toes	Dažnai (30–79%)
Single transverse palmar crease	Dažnai (30–79%)
Dropped arches	Kartais (5–29%)
Joint contracture of the 5th finger	Kartais (5–29%)
Prominent fingertip pads	Kartais (5–29%)
Webbed 2nd and 3rd toes	Kartais (5–29%)
Acetabular dysplasia	Retai (1–4 %)
Attachment of thumb close to wrist	Retai (1–4 %)
Broad foot	Retai (1–4 %)
Broad palm	Retai (1–4 %)
Club feet	Retai (1–4 %)
Finger syndactyly	Retai (1–4 %)
Fused toes	Retai (1–4 %)
High-arched foot	Retai (1–4 %)
Knock knees	Retai (1–4 %)
Partial hip dislocation	Retai (1–4 %)
Short toe	Retai (1–4 %)
Small hand	Retai (1–4 %)
Tapered finger	Retai (1–4 %)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Spasticity and rigidity of muscles	Visada
Low muscle tone	Dažnai (30–79%)
Osteopenia	Kartais (5–29%)
Abnormal formation of the hip	Retai (1–4 %)
Double-Jointed	Retai (1–4 %)
Hunched back	Retai (1–4 %)
Osteoporosis	Retai (1–4 %)
Permanent flexion of the finger or toe	Retai (1–4 %)
Scoliosis	Retai (1–4 %)
Spastic walk	Retai (1–4 %)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Cupped ear	Kartais (5–29%)
Ears rotated toward back of head	Kartais (5–29%)
Hearing impairment	Kartais (5–29%)
Low-set ears	Kartais (5–29%)
Overfolded ears	Kartais (5–29%)
Large ears	Retai (1–4 %)
Prominent ear	Retai (1–4 %)
Small ears	Retai (1–4 %)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Cross-eyed	Dažnai (30–79%)
Farsightedness	Dažnai (30–79%)
Cornea of eye less than 10mm in diameter	Kartais (5–29%)
Deeply set eye	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)
Abnormally close eyes	Retai (1–4 %)
Blue outer white part of eyeball	Retai (1–4 %)
Drooping upper eyelid	Retai (1–4 %)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Hole in heart wall separating two lower heart chambers	Visada
An opening in the wall separating the top two chambers of the heart	Dažnai (30–79%)
Patent ductus arteriosus	Dažnai (30–79%)
Increased blood pressure in blood vessels of lungs	Kartais (5–29%)
Mitral regurgitation	Kartais (5–29%)
Narrowing of aorta	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Feeding difficulties	Dažnai (30–79%)
Acid reflux	Kartais (5–29%)
Chronic constipation	Kartais (5–29%)
Inguinal hernia	Kartais (5–29%)
Nasogastric tube feeding in infancy	Kartais (5–29%)
Prolonged yellowing of skin in newborn	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Undescended testes	Dažnai (30–79%)
Phimosis	Kartais (5–29%)
Small labia majora	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Recurrent infections	Dažnai (30–79%)
Infection in blood stream	Kartais (5–29%)
Recurrent chest infections	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Dažnai (30–79%)
Small for gestational age	Dažnai (30–79%)
Short stature	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Excessive hair growth	Kartais (5–29%)
Spinal dimple	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Pulmonary hemorrhage	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Fetal distress	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Chronic lung disease	Kartais (5–29%)

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

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