Tunnused

Geeniga BCOR seotud tunnused

BCL6 corepressor

Inimese fenotüübi ontoloogia seostab geeniga BCOR 191 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Delayed eruption of teeth	Alati
Delayed loss of baby teeth	Alati
High palate	Alati
Long philtrum	Alati
Abnormal dentition	Väga sageli (80–99%)
Cleft nasal tip	Väga sageli (80–99%)
Abnormal dental position	Sageli (30–79%)
Abnormality of dental shape	Sageli (30–79%)
Abnormality of the palate	Sageli (30–79%)
Abnormally small head	Sageli (30–79%)
Bifid uvula	Sageli (30–79%)
Broad nasal tip	Sageli (30–79%)
Cleft of the mouth	Sageli (30–79%)
Cleft palate	Sageli (30–79%)
Failure of development of more than six teeth	Sageli (30–79%)
Fused teeth	Sageli (30–79%)
Narrow face	Sageli (30–79%)
Prominent nasal bridge	Sageli (30–79%)
Radiculomegaly	Sageli (30–79%)
Submucous cleft hard palate	Sageli (30–79%)
Adhesion of eyelids	Mõnikord (5–29%)
Dandy-Walker malformation	Mõnikord (5–29%)
Gum enlargement	Mõnikord (5–29%)
Highly arched eyebrow	Mõnikord (5–29%)
Inflammation of the mouth	Mõnikord (5–29%)
Only one upper front tooth	Mõnikord (5–29%)
Skin tag in front of the ear	Mõnikord (5–29%)
Webbed neck	Mõnikord (5–29%)
Absence of upper lateral incisor	Pole registreeritud
Bad bite	Pole registreeritud
Cleft upper lip	Pole registreeritud
Dental crowding	Pole registreeritud
Extra teeth	Pole registreeritud
High, narrow palate	Pole registreeritud
Laterally curved eyebrow	Pole registreeritud
Long face	Pole registreeritud
Narrow opening between the eyelids	Pole registreeritud
Thick eyebrow	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Contracture of the proximal interphalangeal joint of the 2nd toe	Alati
Contracture of the proximal interphalangeal joint of the 3rd toe	Alati
Curvature of digit	Alati
Prominent fingertip pads	Alati
Webbed fingers or toes	Alati
Broad big toe	Sageli (30–79%)
Broad palm	Sageli (30–79%)
Complete duplication of thumb bones	Sageli (30–79%)
Curvature of little finger	Sageli (30–79%)
Finger syndactyly	Sageli (30–79%)
Flexion contracture of the 2nd toe	Sageli (30–79%)
Flexion contracture of the 4th toe	Sageli (30–79%)
Fused forearm bones	Sageli (30–79%)
Gap between 1st and 2nd toes	Sageli (30–79%)
Hammertoe	Sageli (30–79%)
Permanent flexion of the finger	Sageli (30–79%)
Webbed 2nd and 3rd toes	Sageli (30–79%)
Webbed skin of 2nd-3rd toes	Sageli (30–79%)
Club feet	Mõnikord (5–29%)
Hand clenching	Mõnikord (5–29%)
Knock knees	Mõnikord (5–29%)
Outward turned elbows	Mõnikord (5–29%)
Short thumb	Mõnikord (5–29%)
Abnormal palmar dermatoglyphics	Pole registreeritud
Joint contracture of the hand	Pole registreeritud
Radial deviation of finger	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Abnormally small eyeball	Alati
Absence of eyeballs	Alati
Cat eye	Alati
Clouding of the lens of the eye at birth	Alati
Clouding of the lens of the eye	Väga sageli (80–99%)
Cornea of eye less than 10mm in diameter	Väga sageli (80–99%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Sageli (30–79%)
Drooping upper eyelid	Sageli (30–79%)
Glaucoma	Sageli (30–79%)
Optic disc coloboma	Sageli (30–79%)
Ectopia lentis	Mõnikord (5–29%)
Involuntary, rapid, rhythmic eye movements	Mõnikord (5–29%)
Phthisis bulbi	Mõnikord (5–29%)
Retinal detachment	Mõnikord (5–29%)
Visual impairment	Mõnikord (5–29%)
Blindness	Pole registreeritud
Ciliary body coloboma	Pole registreeritud
Outward facing eye ball	Pole registreeritud
Remnants of the hyaloid vascular system	Pole registreeritud
Visual loss	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Funnel chest	Alati
Generalized decreased muscle tone	Alati
Scoliosis	Alati
Muscle weakness	Sageli (30–79%)
Abnormal collarbone	Mõnikord (5–29%)
Abnormality of the shoulder	Mõnikord (5–29%)
Bone pain	Mõnikord (5–29%)
Flexed joint that cannot be straightened	Mõnikord (5–29%)
Hunched back	Mõnikord (5–29%)
Long rib cage	Mõnikord (5–29%)
Prominent swayback	Mõnikord (5–29%)
Spastic paraparesis	Mõnikord (5–29%)
Excessive inward curvature of lower spine	Pole registreeritud
Kyphoscoliosis	Pole registreeritud
Low muscle tone	Pole registreeritud
Narrow chest	Pole registreeritud
Permanent flexion of the finger or toe	Pole registreeritud
Rounded shoulders	Pole registreeritud
Short collarbone	Pole registreeritud
Spastic diplegia	Pole registreeritud

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Bleeding gums	Sageli (30–79%)
Bleeding tendency	Sageli (30–79%)
Blood spots	Sageli (30–79%)
Bloody nose	Sageli (30–79%)
Bone marrow hypercellularity	Sageli (30–79%)
Bruising susceptibility	Sageli (30–79%)
Decreased blood leukocyte number	Sageli (30–79%)
Disseminated intravascular coagulation	Sageli (30–79%)
Ecchymosis	Sageli (30–79%)
Low blood cell count	Sageli (30–79%)
Low number of red blood cells or hemoglobin	Sageli (30–79%)
Low platelet count	Sageli (30–79%)
Petechiae	Sageli (30–79%)
Diffuse alveolar hemorrhage	Mõnikord (5–29%)
Elevated white blood count	Mõnikord (5–29%)
Hypofibrinogenemia	Mõnikord (5–29%)
Low blood neutrophil count	Mõnikord (5–29%)
Oral cavity bleeding	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Abnormal cardiac septum morphology	Väga sageli (80–99%)
An opening in the wall separating the top two chambers of the heart	Sageli (30–79%)
Hole in heart wall separating two lower heart chambers	Sageli (30–79%)
Abnormal cardiovascular system morphology	Mõnikord (5–29%)
Double outlet right ventricle	Mõnikord (5–29%)
Heart tip and four chambers point towards right side of body	Mõnikord (5–29%)
Mitral valve prolapse	Mõnikord (5–29%)
Narrowing of peripheral lung artery	Mõnikord (5–29%)
Patent ductus arteriosus	Mõnikord (5–29%)
Swollen lymph nodes	Mõnikord (5–29%)
Underdeveloped aortic arch	Mõnikord (5–29%)
Aortic valve has two leaflets rather than three	Pole registreeritud
Narrowing of aortic valve	Pole registreeritud
Narrowing of pulmonic valve	Pole registreeritud

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Intellectual disability	Alati
Motor delay	Alati
Intellectual disability, mild	Sageli (30–79%)
Abnormal speech pattern	Mõnikord (5–29%)
Addictive alcohol use	Mõnikord (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Mõnikord (5–29%)
Autism spectrum disorder	Mõnikord (5–29%)
Epilepsy	Mõnikord (5–29%)
Global developmental delay	Mõnikord (5–29%)
Self-injurious behavior	Mõnikord (5–29%)
Underdevelopment of part of brain called corpus callosum	Mõnikord (5–29%)
Aggressive behavior	Pole registreeritud
Self-mutilation	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Abnormally shaped ears	Sageli (30–79%)
Dizziness	Sageli (30–79%)
Ears rotated toward back of head	Sageli (30–79%)
Cupped ear	Mõnikord (5–29%)
Hearing impairment	Mõnikord (5–29%)
Sensorineural hearing impairment	Mõnikord (5–29%)
Anteverted ears	Pole registreeritud
Asymmetric ears	Pole registreeritud
Low-set ears	Pole registreeritud
Overfolded ears	Pole registreeritud
Recurrent middle ear infection	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Anorexia	Sageli (30–79%)
Abdominal pain	Mõnikord (5–29%)
Feeding difficulties in infancy	Mõnikord (5–29%)
Intestinal malrotation	Mõnikord (5–29%)
Umbilical hernia	Mõnikord (5–29%)
Absent anus	Pole registreeritud
Enlarged colon lacking nerve cells	Pole registreeritud
Pyloric stenosis	Pole registreeritud
Rectum protrudes through anus	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Absent/small kidney	Sageli (30–79%)
Hydronephrosis	Sageli (30–79%)
Hydroureter	Sageli (30–79%)
Hypospadias	Sageli (30–79%)
Undescended testes	Sageli (30–79%)
Abnormal uterus bleeding	Harva (1–4%)
Double vagina	Pole registreeritud
Small kidneys	Pole registreeritud

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Short stature	Sageli (30–79%)
Weight loss	Sageli (30–79%)
Decreased body weight	Mõnikord (5–29%)
Growth delay	Pole registreeritud

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Exertional breathlessness	Sageli (30–79%)
Poorly developed lungs	Mõnikord (5–29%)
Wet cough	Mõnikord (5–29%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Adrenal insufficiency	Mõnikord (5–29%)
Underactive thyroid	Mõnikord (5–29%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Fatigue	Sageli (30–79%)
Death of body tissue due to lack of blood flow or infection	Harva (1–4%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Fever	Sageli (30–79%)
Blood in urine	Harva (1–4%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Chronic infection	Sageli (30–79%)

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 BCOR seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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