Trăsături

Trăsături asociate cu CTCF

CCCTC-binding factor

Human Phenotype Ontology asociază 151 trăsături cu CTCF, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

CTCF

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of limbs

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

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Spasticity and rigidity of muscles	Întotdeauna
Low muscle tone	Des (30–79%)
Osteopenia	Uneori (5–29%)
Abnormal formation of the hip	Rar (1–4%)
Double-Jointed	Rar (1–4%)
Hunched back	Rar (1–4%)
Osteoporosis	Rar (1–4%)
Permanent flexion of the finger or toe	Rar (1–4%)
Scoliosis	Rar (1–4%)
Spastic walk	Rar (1–4%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Cupped ear	Uneori (5–29%)
Ears rotated toward back of head	Uneori (5–29%)
Hearing impairment	Uneori (5–29%)
Low-set ears	Uneori (5–29%)
Overfolded ears	Uneori (5–29%)
Large ears	Rar (1–4%)
Prominent ear	Rar (1–4%)
Small ears	Rar (1–4%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Cross-eyed	Des (30–79%)
Farsightedness	Des (30–79%)
Cornea of eye less than 10mm in diameter	Uneori (5–29%)
Deeply set eye	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)
Abnormally close eyes	Rar (1–4%)
Blue outer white part of eyeball	Rar (1–4%)
Drooping upper eyelid	Rar (1–4%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Hole in heart wall separating two lower heart chambers	Întotdeauna
An opening in the wall separating the top two chambers of the heart	Des (30–79%)
Patent ductus arteriosus	Des (30–79%)
Increased blood pressure in blood vessels of lungs	Uneori (5–29%)
Mitral regurgitation	Uneori (5–29%)
Narrowing of aorta	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties	Des (30–79%)
Acid reflux	Uneori (5–29%)
Chronic constipation	Uneori (5–29%)
Inguinal hernia	Uneori (5–29%)
Nasogastric tube feeding in infancy	Uneori (5–29%)
Prolonged yellowing of skin in newborn	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Undescended testes	Des (30–79%)
Phimosis	Uneori (5–29%)
Small labia majora	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent infections	Des (30–79%)
Infection in blood stream	Uneori (5–29%)
Recurrent chest infections	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Des (30–79%)
Small for gestational age	Des (30–79%)
Short stature	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Excessive hair growth	Uneori (5–29%)
Spinal dimple	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Pulmonary hemorrhage	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Fetal distress	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Chronic lung disease	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu CTCF și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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