Trăsături

Trăsături asociate cu BCOR

BCL6 corepressor

Human Phenotype Ontology asociază 191 trăsături cu BCOR, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of head or neck

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

Abnormality of limbs

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

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormally small eyeball	Întotdeauna
Absence of eyeballs	Întotdeauna
Cat eye	Întotdeauna
Clouding of the lens of the eye at birth	Întotdeauna
Clouding of the lens of the eye	Foarte des (80–99%)
Cornea of eye less than 10mm in diameter	Foarte des (80–99%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Des (30–79%)
Drooping upper eyelid	Des (30–79%)
Glaucoma	Des (30–79%)
Optic disc coloboma	Des (30–79%)
Ectopia lentis	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Phthisis bulbi	Uneori (5–29%)
Retinal detachment	Uneori (5–29%)
Visual impairment	Uneori (5–29%)
Blindness	Neînregistrat
Ciliary body coloboma	Neînregistrat
Outward facing eye ball	Neînregistrat
Remnants of the hyaloid vascular system	Neînregistrat
Visual loss	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Funnel chest	Întotdeauna
Generalized decreased muscle tone	Întotdeauna
Scoliosis	Întotdeauna
Muscle weakness	Des (30–79%)
Abnormal collarbone	Uneori (5–29%)
Abnormality of the shoulder	Uneori (5–29%)
Bone pain	Uneori (5–29%)
Flexed joint that cannot be straightened	Uneori (5–29%)
Hunched back	Uneori (5–29%)
Long rib cage	Uneori (5–29%)
Prominent swayback	Uneori (5–29%)
Spastic paraparesis	Uneori (5–29%)
Excessive inward curvature of lower spine	Neînregistrat
Kyphoscoliosis	Neînregistrat
Low muscle tone	Neînregistrat
Narrow chest	Neînregistrat
Permanent flexion of the finger or toe	Neînregistrat
Rounded shoulders	Neînregistrat
Short collarbone	Neînregistrat
Spastic diplegia	Neînregistrat

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Bleeding gums	Des (30–79%)
Bleeding tendency	Des (30–79%)
Blood spots	Des (30–79%)
Bloody nose	Des (30–79%)
Bone marrow hypercellularity	Des (30–79%)
Bruising susceptibility	Des (30–79%)
Decreased blood leukocyte number	Des (30–79%)
Disseminated intravascular coagulation	Des (30–79%)
Ecchymosis	Des (30–79%)
Low blood cell count	Des (30–79%)
Low number of red blood cells or hemoglobin	Des (30–79%)
Low platelet count	Des (30–79%)
Petechiae	Des (30–79%)
Diffuse alveolar hemorrhage	Uneori (5–29%)
Elevated white blood count	Uneori (5–29%)
Hypofibrinogenemia	Uneori (5–29%)
Low blood neutrophil count	Uneori (5–29%)
Oral cavity bleeding	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal cardiac septum morphology	Foarte des (80–99%)
An opening in the wall separating the top two chambers of the heart	Des (30–79%)
Hole in heart wall separating two lower heart chambers	Des (30–79%)
Abnormal cardiovascular system morphology	Uneori (5–29%)
Double outlet right ventricle	Uneori (5–29%)
Heart tip and four chambers point towards right side of body	Uneori (5–29%)
Mitral valve prolapse	Uneori (5–29%)
Narrowing of peripheral lung artery	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)
Swollen lymph nodes	Uneori (5–29%)
Underdeveloped aortic arch	Uneori (5–29%)
Aortic valve has two leaflets rather than three	Neînregistrat
Narrowing of aortic valve	Neînregistrat
Narrowing of pulmonic valve	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Intellectual disability	Întotdeauna
Motor delay	Întotdeauna
Intellectual disability, mild	Des (30–79%)
Abnormal speech pattern	Uneori (5–29%)
Addictive alcohol use	Uneori (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Uneori (5–29%)
Autism spectrum disorder	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Global developmental delay	Uneori (5–29%)
Self-injurious behavior	Uneori (5–29%)
Underdevelopment of part of brain called corpus callosum	Uneori (5–29%)
Aggressive behavior	Neînregistrat
Self-mutilation	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Abnormally shaped ears	Des (30–79%)
Dizziness	Des (30–79%)
Ears rotated toward back of head	Des (30–79%)
Cupped ear	Uneori (5–29%)
Hearing impairment	Uneori (5–29%)
Sensorineural hearing impairment	Uneori (5–29%)
Anteverted ears	Neînregistrat
Asymmetric ears	Neînregistrat
Low-set ears	Neînregistrat
Overfolded ears	Neînregistrat
Recurrent middle ear infection	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Anorexia	Des (30–79%)
Abdominal pain	Uneori (5–29%)
Feeding difficulties in infancy	Uneori (5–29%)
Intestinal malrotation	Uneori (5–29%)
Umbilical hernia	Uneori (5–29%)
Absent anus	Neînregistrat
Enlarged colon lacking nerve cells	Neînregistrat
Pyloric stenosis	Neînregistrat
Rectum protrudes through anus	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Absent/small kidney	Des (30–79%)
Hydronephrosis	Des (30–79%)
Hydroureter	Des (30–79%)
Hypospadias	Des (30–79%)
Undescended testes	Des (30–79%)
Abnormal uterus bleeding	Rar (1–4%)
Double vagina	Neînregistrat
Small kidneys	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Short stature	Des (30–79%)
Weight loss	Des (30–79%)
Decreased body weight	Uneori (5–29%)
Growth delay	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Exertional breathlessness	Des (30–79%)
Poorly developed lungs	Uneori (5–29%)
Wet cough	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Adrenal insufficiency	Uneori (5–29%)
Underactive thyroid	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Fatigue	Des (30–79%)
Death of body tissue due to lack of blood flow or infection	Rar (1–4%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Fever	Des (30–79%)
Blood in urine	Rar (1–4%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Chronic infection	Des (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu BCOR și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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