Tratti

Tratti collegati a CTCF

CCCTC-binding factor

La Human Phenotype Ontology collega 151 tratti a CTCF, per sistema corporeo: caratteristiche osservate in persone con una delle condizioni rare del gene.

CTCF

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of limbs

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

Abnormality of the musculoskeletal system

Tratto	Frequenza di osservazione
Spasticity and rigidity of muscles	Sempre
Low muscle tone	Spesso (30–79%)
Osteopenia	A volte (5–29%)
Abnormal formation of the hip	Raramente (1–4%)
Double-Jointed	Raramente (1–4%)
Hunched back	Raramente (1–4%)
Osteoporosis	Raramente (1–4%)
Permanent flexion of the finger or toe	Raramente (1–4%)
Scoliosis	Raramente (1–4%)
Spastic walk	Raramente (1–4%)

Abnormality of the ear

Tratto	Frequenza di osservazione
Cupped ear	A volte (5–29%)
Ears rotated toward back of head	A volte (5–29%)
Hearing impairment	A volte (5–29%)
Low-set ears	A volte (5–29%)
Overfolded ears	A volte (5–29%)
Large ears	Raramente (1–4%)
Prominent ear	Raramente (1–4%)
Small ears	Raramente (1–4%)

Abnormality of the eye

Tratto	Frequenza di osservazione
Cross-eyed	Spesso (30–79%)
Farsightedness	Spesso (30–79%)
Cornea of eye less than 10mm in diameter	A volte (5–29%)
Deeply set eye	A volte (5–29%)
Wide-set eyes	A volte (5–29%)
Abnormally close eyes	Raramente (1–4%)
Blue outer white part of eyeball	Raramente (1–4%)
Drooping upper eyelid	Raramente (1–4%)

Abnormality of the cardiovascular system

Tratto	Frequenza di osservazione
Hole in heart wall separating two lower heart chambers	Sempre
An opening in the wall separating the top two chambers of the heart	Spesso (30–79%)
Patent ductus arteriosus	Spesso (30–79%)
Increased blood pressure in blood vessels of lungs	A volte (5–29%)
Mitral regurgitation	A volte (5–29%)
Narrowing of aorta	A volte (5–29%)

Abnormality of the digestive system

Tratto	Frequenza di osservazione
Feeding difficulties	Spesso (30–79%)
Acid reflux	A volte (5–29%)
Chronic constipation	A volte (5–29%)
Inguinal hernia	A volte (5–29%)
Nasogastric tube feeding in infancy	A volte (5–29%)
Prolonged yellowing of skin in newborn	A volte (5–29%)

Abnormality of the genitourinary system

Tratto	Frequenza di osservazione
Undescended testes	Spesso (30–79%)
Phimosis	A volte (5–29%)
Small labia majora	A volte (5–29%)

Abnormality of the immune system

Tratto	Frequenza di osservazione
Recurrent infections	Spesso (30–79%)
Infection in blood stream	A volte (5–29%)
Recurrent chest infections	A volte (5–29%)

Growth abnormality

Tratto	Frequenza di osservazione
Faltering weight	Spesso (30–79%)
Small for gestational age	Spesso (30–79%)
Short stature	A volte (5–29%)

Abnormality of the integument

Tratto	Frequenza di osservazione
Excessive hair growth	A volte (5–29%)
Spinal dimple	A volte (5–29%)

Abnormality of blood and blood-forming tissues

Tratto	Frequenza di osservazione
Pulmonary hemorrhage	A volte (5–29%)

Abnormality of prenatal development or birth

Tratto	Frequenza di osservazione
Fetal distress	A volte (5–29%)

Abnormality of the respiratory system

Tratto	Frequenza di osservazione
Chronic lung disease	A volte (5–29%)

Con quale frequenza questo tratto si presenta tra le persone con una delle condizioni legate al gene, nella misura più alta riscontrata tra queste, secondo quanto registrato dall'Human Phenotype Ontology. Queste pagine descrivono tratti e la ricerca che li riguarda; non costituiscono una diagnosi, e per i sintomi il medico o il consulente genetico è la persona a cui rivolgersi.

Fonte dei dati

Human Phenotype Ontology, versione 2026-09-01: i tratti collegati a CTCF e la frequenza con cui ciascuno viene osservato. Per saperne di più visiti hpo.jax.org.

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