Trăsături

Trăsături asociate cu BCL11A

BCL11 transcription factor A

Human Phenotype Ontology asociază 109 trăsături cu BCL11A, 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
Abnormally small head	Foarte des (80–99%)
Corners of eye widely separated	Foarte des (80–99%)
Downward slanting of the opening between the eyelids	Foarte des (80–99%)
Drooping lower lip	Foarte des (80–99%)
Eye folds	Foarte des (80–99%)
High palate	Foarte des (80–99%)
Long philtrum	Foarte des (80–99%)
Narrow mouth	Foarte des (80–99%)
Narrow opening between the eyelids	Foarte des (80–99%)
Prominent nasal bridge	Foarte des (80–99%)
Smooth philtrum	Foarte des (80–99%)
Thin red part of the upper lip	Foarte des (80–99%)
Wide nasal bridge	Foarte des (80–99%)
Broad head shape	Des (30–79%)
Long eyelashes	Des (30–79%)
Midface retrusion	Des (30–79%)
Narrow forehead	Des (30–79%)
Prominent nasal tip	Des (30–79%)
Receding chin	Des (30–79%)
Sloping forehead	Des (30–79%)
Bell's palsy	Uneori (5–29%)
High forehead	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
Nasal tip, upturned	Uneori (5–29%)
Prominent metopic ridge	Uneori (5–29%)
Sparse eyebrow	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Delayed ability to walk	Întotdeauna
Global developmental delay	Întotdeauna
Intellectual disability	Întotdeauna
Delayed speech and language development	Foarte des (80–99%)
IQ between 34 and 49	Foarte des (80–99%)
Attention deficit	Des (30–79%)
Autism	Des (30–79%)
Autism spectrum disorder	Des (30–79%)
Difficulty sleeping	Des (30–79%)
Abnormal gait	Uneori (5–29%)
Cerebellar vermis atrophy	Uneori (5–29%)
Difficulty articulating speech	Uneori (5–29%)
EEG abnormality	Uneori (5–29%)
Instability or lack of coordination of central trunk muscles	Uneori (5–29%)
Limb ataxia	Uneori (5–29%)
Recurrent hand flapping	Uneori (5–29%)
Self-injurious behavior	Uneori (5–29%)
Small cerebellum	Uneori (5–29%)
Ventriculomegaly	Uneori (5–29%)
Wide based walk	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Double-Jointed	Foarte des (80–99%)
Generalized decreased muscle tone	Des (30–79%)
Low muscle tone	Des (30–79%)
Lower limb spasticity	Des (30–79%)
Anterior concavity of thoracic vertebrae	Uneori (5–29%)
Funnel chest	Uneori (5–29%)
Hunched back	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Wide rib cage	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Front half of foot turns inward	Des (30–79%)
Permanent flexion of the finger	Des (30–79%)
Tapered finger	Des (30–79%)
Bilateral single transverse palmar creases	Uneori (5–29%)
Dislocated kneecap	Uneori (5–29%)
Dropped arches	Uneori (5–29%)
Gap between 1st and 2nd toes	Uneori (5–29%)
Toe curvature	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Cross-eyed	Întotdeauna
Drooping upper eyelid	Foarte des (80–99%)
Optic atrophy	Foarte des (80–99%)
Optic nerve hypoplasia	Foarte des (80–99%)
Blue outer white part of eyeball	Des (30–79%)
Visual impairment	Des (30–79%)
Noninflammatory retina disease	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Persistence of hemoglobin F	Întotdeauna
HbS hemoglobin	Des (30–79%)
Hypochromic microcytic anemia	Uneori (5–29%)
Increased immature red blood cells	Uneori (5–29%)
Increased red cell sickling tendency	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Absent spleen	Uneori (5–29%)
Aortic regurgitation	Uneori (5–29%)
Increased spleen size	Uneori (5–29%)
Mitral regurgitation	Uneori (5–29%)
Splenic infarction	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Low-set ears	Des (30–79%)
Prominent ear	Des (30–79%)
Hearing impairment	Uneori (5–29%)
Cupped ear	Neînregistrat
Overfolded ears	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Des (30–79%)
Growth delay	Des (30–79%)
Prenatal growth deficiency	Des (30–79%)
Short stature	Uneori (5–29%)
Tall stature	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Abdominal pain	Uneori (5–29%)
Feeding difficulties	Uneori (5–29%)
Inguinal hernia	Uneori (5–29%)
Poor swallowing	Uneori (5–29%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Wide-spaced nipples	Des (30–79%)
Accessory nipple	Uneori (5–29%)
Enlarged male breast	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Hydronephrosis	Des (30–79%)
Decreased testicular size	Uneori (5–29%)
Multicystic kidney dysplasia	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent respiratory infections	Des (30–79%)
Severe infection	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Lung infiltrates	Uneori (5–29%)
Softening of voice box tissue	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
High levels of amniotic fluid	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Decreased activity of gonads	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Fine hair	Uneori (5–29%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Nasal speech	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Joint pain	Uneori (5–29%)

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 BCL11A și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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