Kjennetegn

Kjennetegn knyttet til CTCF

CCCTC-binding factor

Human Phenotype Ontology knytter 151 kjennetegn til CTCF, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

CTCF

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of limbs

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

Abnormality of the musculoskeletal system

Kjennetegn	Hvor ofte den forekommer
Spasticity and rigidity of muscles	Alltid
Low muscle tone	Ofte (30–79 %)
Osteopenia	Noen ganger (5–29 %)
Abnormal formation of the hip	Sjelden (1–4%)
Double-Jointed	Sjelden (1–4%)
Hunched back	Sjelden (1–4%)
Osteoporosis	Sjelden (1–4%)
Permanent flexion of the finger or toe	Sjelden (1–4%)
Scoliosis	Sjelden (1–4%)
Spastic walk	Sjelden (1–4%)

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Cupped ear	Noen ganger (5–29 %)
Ears rotated toward back of head	Noen ganger (5–29 %)
Hearing impairment	Noen ganger (5–29 %)
Low-set ears	Noen ganger (5–29 %)
Overfolded ears	Noen ganger (5–29 %)
Large ears	Sjelden (1–4%)
Prominent ear	Sjelden (1–4%)
Small ears	Sjelden (1–4%)

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Cross-eyed	Ofte (30–79 %)
Farsightedness	Ofte (30–79 %)
Cornea of eye less than 10mm in diameter	Noen ganger (5–29 %)
Deeply set eye	Noen ganger (5–29 %)
Wide-set eyes	Noen ganger (5–29 %)
Abnormally close eyes	Sjelden (1–4%)
Blue outer white part of eyeball	Sjelden (1–4%)
Drooping upper eyelid	Sjelden (1–4%)

Abnormality of the cardiovascular system

Kjennetegn	Hvor ofte den forekommer
Hole in heart wall separating two lower heart chambers	Alltid
An opening in the wall separating the top two chambers of the heart	Ofte (30–79 %)
Patent ductus arteriosus	Ofte (30–79 %)
Increased blood pressure in blood vessels of lungs	Noen ganger (5–29 %)
Mitral regurgitation	Noen ganger (5–29 %)
Narrowing of aorta	Noen ganger (5–29 %)

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Feeding difficulties	Ofte (30–79 %)
Acid reflux	Noen ganger (5–29 %)
Chronic constipation	Noen ganger (5–29 %)
Inguinal hernia	Noen ganger (5–29 %)
Nasogastric tube feeding in infancy	Noen ganger (5–29 %)
Prolonged yellowing of skin in newborn	Noen ganger (5–29 %)

Abnormality of the genitourinary system

Kjennetegn	Hvor ofte den forekommer
Undescended testes	Ofte (30–79 %)
Phimosis	Noen ganger (5–29 %)
Small labia majora	Noen ganger (5–29 %)

Abnormality of the immune system

Kjennetegn	Hvor ofte den forekommer
Recurrent infections	Ofte (30–79 %)
Infection in blood stream	Noen ganger (5–29 %)
Recurrent chest infections	Noen ganger (5–29 %)

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Faltering weight	Ofte (30–79 %)
Small for gestational age	Ofte (30–79 %)
Short stature	Noen ganger (5–29 %)

Abnormality of the integument

Kjennetegn	Hvor ofte den forekommer
Excessive hair growth	Noen ganger (5–29 %)
Spinal dimple	Noen ganger (5–29 %)

Abnormality of blood and blood-forming tissues

Kjennetegn	Hvor ofte den forekommer
Pulmonary hemorrhage	Noen ganger (5–29 %)

Abnormality of prenatal development or birth

Kjennetegn	Hvor ofte den forekommer
Fetal distress	Noen ganger (5–29 %)

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Chronic lung disease	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til CTCF og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

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