Tunnused

Geeniga CTCF seotud tunnused

CCCTC-binding factor

Inimese fenotüübi ontoloogia seostab geeniga CTCF 151 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

CTCF

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of limbs

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

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Spasticity and rigidity of muscles	Alati
Low muscle tone	Sageli (30–79%)
Osteopenia	Mõnikord (5–29%)
Abnormal formation of the hip	Harva (1–4%)
Double-Jointed	Harva (1–4%)
Hunched back	Harva (1–4%)
Osteoporosis	Harva (1–4%)
Permanent flexion of the finger or toe	Harva (1–4%)
Scoliosis	Harva (1–4%)
Spastic walk	Harva (1–4%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Cupped ear	Mõnikord (5–29%)
Ears rotated toward back of head	Mõnikord (5–29%)
Hearing impairment	Mõnikord (5–29%)
Low-set ears	Mõnikord (5–29%)
Overfolded ears	Mõnikord (5–29%)
Large ears	Harva (1–4%)
Prominent ear	Harva (1–4%)
Small ears	Harva (1–4%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Cross-eyed	Sageli (30–79%)
Farsightedness	Sageli (30–79%)
Cornea of eye less than 10mm in diameter	Mõnikord (5–29%)
Deeply set eye	Mõnikord (5–29%)
Wide-set eyes	Mõnikord (5–29%)
Abnormally close eyes	Harva (1–4%)
Blue outer white part of eyeball	Harva (1–4%)
Drooping upper eyelid	Harva (1–4%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Hole in heart wall separating two lower heart chambers	Alati
An opening in the wall separating the top two chambers of the heart	Sageli (30–79%)
Patent ductus arteriosus	Sageli (30–79%)
Increased blood pressure in blood vessels of lungs	Mõnikord (5–29%)
Mitral regurgitation	Mõnikord (5–29%)
Narrowing of aorta	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Feeding difficulties	Sageli (30–79%)
Acid reflux	Mõnikord (5–29%)
Chronic constipation	Mõnikord (5–29%)
Inguinal hernia	Mõnikord (5–29%)
Nasogastric tube feeding in infancy	Mõnikord (5–29%)
Prolonged yellowing of skin in newborn	Mõnikord (5–29%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Undescended testes	Sageli (30–79%)
Phimosis	Mõnikord (5–29%)
Small labia majora	Mõnikord (5–29%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Recurrent infections	Sageli (30–79%)
Infection in blood stream	Mõnikord (5–29%)
Recurrent chest infections	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Sageli (30–79%)
Small for gestational age	Sageli (30–79%)
Short stature	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Excessive hair growth	Mõnikord (5–29%)
Spinal dimple	Mõnikord (5–29%)

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Pulmonary hemorrhage	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Fetal distress	Mõnikord (5–29%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Chronic lung disease	Mõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga CTCF seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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