특성

CTCF 연관 특성

CCCTC-binding factor

인간 표현형 온톨로지가 CTCF에 연결하는 특성은 151개이며, 신체 계통별로 나뉩니다. 이 특성들은 이 유전자의 희귀 질환 중 하나를 가진 사람들에게서 관찰되는 특징입니다.

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of limbs

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

Abnormality of the musculoskeletal system

특성	나타나는 빈도
Spasticity and rigidity of muscles	항상
Low muscle tone	자주 (30–79%)
Osteopenia	가끔 (5–29%)
Abnormal formation of the hip	드물게 (1–4%)
Double-Jointed	드물게 (1–4%)
Hunched back	드물게 (1–4%)
Osteoporosis	드물게 (1–4%)
Permanent flexion of the finger or toe	드물게 (1–4%)
Scoliosis	드물게 (1–4%)
Spastic walk	드물게 (1–4%)

Abnormality of the ear

특성	나타나는 빈도
Cupped ear	가끔 (5–29%)
Ears rotated toward back of head	가끔 (5–29%)
Hearing impairment	가끔 (5–29%)
Low-set ears	가끔 (5–29%)
Overfolded ears	가끔 (5–29%)
Large ears	드물게 (1–4%)
Prominent ear	드물게 (1–4%)
Small ears	드물게 (1–4%)

Abnormality of the eye

특성	나타나는 빈도
Cross-eyed	자주 (30–79%)
Farsightedness	자주 (30–79%)
Cornea of eye less than 10mm in diameter	가끔 (5–29%)
Deeply set eye	가끔 (5–29%)
Wide-set eyes	가끔 (5–29%)
Abnormally close eyes	드물게 (1–4%)
Blue outer white part of eyeball	드물게 (1–4%)
Drooping upper eyelid	드물게 (1–4%)

Abnormality of the cardiovascular system

특성	나타나는 빈도
Hole in heart wall separating two lower heart chambers	항상
An opening in the wall separating the top two chambers of the heart	자주 (30–79%)
Patent ductus arteriosus	자주 (30–79%)
Increased blood pressure in blood vessels of lungs	가끔 (5–29%)
Mitral regurgitation	가끔 (5–29%)
Narrowing of aorta	가끔 (5–29%)

Abnormality of the digestive system

특성	나타나는 빈도
Feeding difficulties	자주 (30–79%)
Acid reflux	가끔 (5–29%)
Chronic constipation	가끔 (5–29%)
Inguinal hernia	가끔 (5–29%)
Nasogastric tube feeding in infancy	가끔 (5–29%)
Prolonged yellowing of skin in newborn	가끔 (5–29%)

Abnormality of the genitourinary system

특성	나타나는 빈도
Undescended testes	자주 (30–79%)
Phimosis	가끔 (5–29%)
Small labia majora	가끔 (5–29%)

Abnormality of the immune system

특성	나타나는 빈도
Recurrent infections	자주 (30–79%)
Infection in blood stream	가끔 (5–29%)
Recurrent chest infections	가끔 (5–29%)

Growth abnormality

특성	나타나는 빈도
Faltering weight	자주 (30–79%)
Small for gestational age	자주 (30–79%)
Short stature	가끔 (5–29%)

Abnormality of the integument

특성	나타나는 빈도
Excessive hair growth	가끔 (5–29%)
Spinal dimple	가끔 (5–29%)

Abnormality of blood and blood-forming tissues

특성	나타나는 빈도
Pulmonary hemorrhage	가끔 (5–29%)

Abnormality of prenatal development or birth

특성	나타나는 빈도
Fetal distress	가끔 (5–29%)

Abnormality of the respiratory system

특성	나타나는 빈도
Chronic lung disease	가끔 (5–29%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

인간 표현형 온톨로지 릴리스 2026-09-01: CTCF에 연결된 특성과 각 특성이 관찰되는 빈도입니다. 자세한 내용은 hpo.jax.org에서 확인해 주세요.

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