Požymiai

Su BCOR susiję požymiai

BCL6 corepressor

Žmogaus fenotipo ontologija sieja 191 požymį su BCOR: tai požymis, pastebimas žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of head or neck

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

Abnormality of limbs

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

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Abnormally small eyeball	Visada
Absence of eyeballs	Visada
Cat eye	Visada
Clouding of the lens of the eye at birth	Visada
Clouding of the lens of the eye	Labai dažnai (80–99%)
Cornea of eye less than 10mm in diameter	Labai dažnai (80–99%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Dažnai (30–79%)
Drooping upper eyelid	Dažnai (30–79%)
Glaucoma	Dažnai (30–79%)
Optic disc coloboma	Dažnai (30–79%)
Ectopia lentis	Kartais (5–29%)
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)
Phthisis bulbi	Kartais (5–29%)
Retinal detachment	Kartais (5–29%)
Visual impairment	Kartais (5–29%)
Blindness	Neužfiksuota
Ciliary body coloboma	Neužfiksuota
Outward facing eye ball	Neužfiksuota
Remnants of the hyaloid vascular system	Neužfiksuota
Visual loss	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Funnel chest	Visada
Generalized decreased muscle tone	Visada
Scoliosis	Visada
Muscle weakness	Dažnai (30–79%)
Abnormal collarbone	Kartais (5–29%)
Abnormality of the shoulder	Kartais (5–29%)
Bone pain	Kartais (5–29%)
Flexed joint that cannot be straightened	Kartais (5–29%)
Hunched back	Kartais (5–29%)
Long rib cage	Kartais (5–29%)
Prominent swayback	Kartais (5–29%)
Spastic paraparesis	Kartais (5–29%)
Excessive inward curvature of lower spine	Neužfiksuota
Kyphoscoliosis	Neužfiksuota
Low muscle tone	Neužfiksuota
Narrow chest	Neužfiksuota
Permanent flexion of the finger or toe	Neužfiksuota
Rounded shoulders	Neužfiksuota
Short collarbone	Neužfiksuota
Spastic diplegia	Neužfiksuota

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Bleeding gums	Dažnai (30–79%)
Bleeding tendency	Dažnai (30–79%)
Blood spots	Dažnai (30–79%)
Bloody nose	Dažnai (30–79%)
Bone marrow hypercellularity	Dažnai (30–79%)
Bruising susceptibility	Dažnai (30–79%)
Decreased blood leukocyte number	Dažnai (30–79%)
Disseminated intravascular coagulation	Dažnai (30–79%)
Ecchymosis	Dažnai (30–79%)
Low blood cell count	Dažnai (30–79%)
Low number of red blood cells or hemoglobin	Dažnai (30–79%)
Low platelet count	Dažnai (30–79%)
Petechiae	Dažnai (30–79%)
Diffuse alveolar hemorrhage	Kartais (5–29%)
Elevated white blood count	Kartais (5–29%)
Hypofibrinogenemia	Kartais (5–29%)
Low blood neutrophil count	Kartais (5–29%)
Oral cavity bleeding	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Abnormal cardiac septum morphology	Labai dažnai (80–99%)
An opening in the wall separating the top two chambers of the heart	Dažnai (30–79%)
Hole in heart wall separating two lower heart chambers	Dažnai (30–79%)
Abnormal cardiovascular system morphology	Kartais (5–29%)
Double outlet right ventricle	Kartais (5–29%)
Heart tip and four chambers point towards right side of body	Kartais (5–29%)
Mitral valve prolapse	Kartais (5–29%)
Narrowing of peripheral lung artery	Kartais (5–29%)
Patent ductus arteriosus	Kartais (5–29%)
Swollen lymph nodes	Kartais (5–29%)
Underdeveloped aortic arch	Kartais (5–29%)
Aortic valve has two leaflets rather than three	Neužfiksuota
Narrowing of aortic valve	Neužfiksuota
Narrowing of pulmonic valve	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Intellectual disability	Visada
Motor delay	Visada
Intellectual disability, mild	Dažnai (30–79%)
Abnormal speech pattern	Kartais (5–29%)
Addictive alcohol use	Kartais (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Kartais (5–29%)
Autism spectrum disorder	Kartais (5–29%)
Epilepsy	Kartais (5–29%)
Global developmental delay	Kartais (5–29%)
Self-injurious behavior	Kartais (5–29%)
Underdevelopment of part of brain called corpus callosum	Kartais (5–29%)
Aggressive behavior	Neužfiksuota
Self-mutilation	Neužfiksuota

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Abnormally shaped ears	Dažnai (30–79%)
Dizziness	Dažnai (30–79%)
Ears rotated toward back of head	Dažnai (30–79%)
Cupped ear	Kartais (5–29%)
Hearing impairment	Kartais (5–29%)
Sensorineural hearing impairment	Kartais (5–29%)
Anteverted ears	Neužfiksuota
Asymmetric ears	Neužfiksuota
Low-set ears	Neužfiksuota
Overfolded ears	Neužfiksuota
Recurrent middle ear infection	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Anorexia	Dažnai (30–79%)
Abdominal pain	Kartais (5–29%)
Feeding difficulties in infancy	Kartais (5–29%)
Intestinal malrotation	Kartais (5–29%)
Umbilical hernia	Kartais (5–29%)
Absent anus	Neužfiksuota
Enlarged colon lacking nerve cells	Neužfiksuota
Pyloric stenosis	Neužfiksuota
Rectum protrudes through anus	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Absent/small kidney	Dažnai (30–79%)
Hydronephrosis	Dažnai (30–79%)
Hydroureter	Dažnai (30–79%)
Hypospadias	Dažnai (30–79%)
Undescended testes	Dažnai (30–79%)
Abnormal uterus bleeding	Retai (1–4 %)
Double vagina	Neužfiksuota
Small kidneys	Neužfiksuota

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Short stature	Dažnai (30–79%)
Weight loss	Dažnai (30–79%)
Decreased body weight	Kartais (5–29%)
Growth delay	Neužfiksuota

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Exertional breathlessness	Dažnai (30–79%)
Poorly developed lungs	Kartais (5–29%)
Wet cough	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Adrenal insufficiency	Kartais (5–29%)
Underactive thyroid	Kartais (5–29%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Fatigue	Dažnai (30–79%)
Death of body tissue due to lack of blood flow or infection	Retai (1–4 %)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Fever	Dažnai (30–79%)
Blood in urine	Retai (1–4 %)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Chronic infection	Dažnai (30–79%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su BCOR susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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