Özellikler

CTCF ile ilişkili özellikler

CCCTC-binding factor

Human Phenotype Ontology, CTCF ile ilişkili 151 özelliği vücut sistemine göre listeliyor: genin nadir hastalıklarından birine sahip kişilerde görülen özellikler.

CTCF

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of limbs

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

Abnormality of the musculoskeletal system

Özellik	Ne sıklıkla görüldüğü
Spasticity and rigidity of muscles	Her zaman
Low muscle tone	Sık (%30–79)
Osteopenia	Bazen (%5–29)
Abnormal formation of the hip	Seyrek (%1–4)
Double-Jointed	Seyrek (%1–4)
Hunched back	Seyrek (%1–4)
Osteoporosis	Seyrek (%1–4)
Permanent flexion of the finger or toe	Seyrek (%1–4)
Scoliosis	Seyrek (%1–4)
Spastic walk	Seyrek (%1–4)

Abnormality of the ear

Özellik	Ne sıklıkla görüldüğü
Cupped ear	Bazen (%5–29)
Ears rotated toward back of head	Bazen (%5–29)
Hearing impairment	Bazen (%5–29)
Low-set ears	Bazen (%5–29)
Overfolded ears	Bazen (%5–29)
Large ears	Seyrek (%1–4)
Prominent ear	Seyrek (%1–4)
Small ears	Seyrek (%1–4)

Abnormality of the eye

Özellik	Ne sıklıkla görüldüğü
Cross-eyed	Sık (%30–79)
Farsightedness	Sık (%30–79)
Cornea of eye less than 10mm in diameter	Bazen (%5–29)
Deeply set eye	Bazen (%5–29)
Wide-set eyes	Bazen (%5–29)
Abnormally close eyes	Seyrek (%1–4)
Blue outer white part of eyeball	Seyrek (%1–4)
Drooping upper eyelid	Seyrek (%1–4)

Abnormality of the cardiovascular system

Özellik	Ne sıklıkla görüldüğü
Hole in heart wall separating two lower heart chambers	Her zaman
An opening in the wall separating the top two chambers of the heart	Sık (%30–79)
Patent ductus arteriosus	Sık (%30–79)
Increased blood pressure in blood vessels of lungs	Bazen (%5–29)
Mitral regurgitation	Bazen (%5–29)
Narrowing of aorta	Bazen (%5–29)

Abnormality of the digestive system

Özellik	Ne sıklıkla görüldüğü
Feeding difficulties	Sık (%30–79)
Acid reflux	Bazen (%5–29)
Chronic constipation	Bazen (%5–29)
Inguinal hernia	Bazen (%5–29)
Nasogastric tube feeding in infancy	Bazen (%5–29)
Prolonged yellowing of skin in newborn	Bazen (%5–29)

Abnormality of the genitourinary system

Özellik	Ne sıklıkla görüldüğü
Undescended testes	Sık (%30–79)
Phimosis	Bazen (%5–29)
Small labia majora	Bazen (%5–29)

Abnormality of the immune system

Özellik	Ne sıklıkla görüldüğü
Recurrent infections	Sık (%30–79)
Infection in blood stream	Bazen (%5–29)
Recurrent chest infections	Bazen (%5–29)

Growth abnormality

Özellik	Ne sıklıkla görüldüğü
Faltering weight	Sık (%30–79)
Small for gestational age	Sık (%30–79)
Short stature	Bazen (%5–29)

Abnormality of the integument

Özellik	Ne sıklıkla görüldüğü
Excessive hair growth	Bazen (%5–29)
Spinal dimple	Bazen (%5–29)

Abnormality of blood and blood-forming tissues

Özellik	Ne sıklıkla görüldüğü
Pulmonary hemorrhage	Bazen (%5–29)

Abnormality of prenatal development or birth

Özellik	Ne sıklıkla görüldüğü
Fetal distress	Bazen (%5–29)

Abnormality of the respiratory system

Özellik	Ne sıklıkla görüldüğü
Chronic lung disease	Bazen (%5–29)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

Human Phenotype Ontology, 2026-09-01 sürümü: CTCF ile ilişkili özellikler ve her birinin ne sıklıkla görüldüğü. Daha fazla bilgi için hpo.jax.org adresini ziyaret edin.

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