Trăsături

Trăsături asociate cu AFF4

ALF transcription elongation factor 4

Human Phenotype Ontology asociază 89 trăsături cu AFF4, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

AFF4

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Coarse facial features	Întotdeauna
Monobrow	Întotdeauna
Thick eyebrow	Întotdeauna
Highly arched eyebrow	Foarte des (80–99%)
Long eyelashes	Foarte des (80–99%)
Nasal tip, upturned	Foarte des (80–99%)
Abnormally small head	Des (30–79%)
Downturned corners of mouth	Des (30–79%)
High, narrow palate	Des (30–79%)
Long philtrum	Des (30–79%)
Round face	Des (30–79%)
Short nose	Des (30–79%)
Abnormally large tongue	Uneori (5–29%)
Asymmetry of the posterior head	Uneori (5–29%)
Downward slanting of the opening between the eyelids	Uneori (5–29%)
Extra bones within cranial sutures	Uneori (5–29%)
Full cheeks	Uneori (5–29%)
High palate	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
Narrow forehead	Uneori (5–29%)
Retraction of the tongue	Uneori (5–29%)
Thin red part of the upper lip	Uneori (5–29%)
Vertical forehead creases	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Patent ductus arteriosus	Întotdeauna
Abnormality of the heart	Des (30–79%)
Anomalous pulmonary venous return	Des (30–79%)
Hole in heart wall separating two lower heart chambers	Des (30–79%)
Increased spleen size	Des (30–79%)
Patent foramen ovale	Des (30–79%)
Bulge in wall of root of large artery that carries blood away from heart	Uneori (5–29%)
Cardiac failure	Uneori (5–29%)
Increased blood pressure in blood vessels of lungs	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Bulging eye	Des (30–79%)
Clouding of the lens of the eye	Des (30–79%)
Optic atrophy	Des (30–79%)
Wide-set eyes	Des (30–79%)
Close sighted	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Drooping upper eyelid	Uneori (5–29%)
Exophoria	Uneori (5–29%)
Lazy eye	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Hearing impairment	Des (30–79%)
Thickened helices	Des (30–79%)
Conductive deafness	Uneori (5–29%)
Cupped ear	Uneori (5–29%)
Ears rotated toward back of head	Uneori (5–29%)
Mixed hearing impairment	Uneori (5–29%)
Sensorineural hearing impairment	Uneori (5–29%)
Thickened ears	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Coarse hair	Des (30–79%)
Curly hair	Des (30–79%)
Thick hair	Des (30–79%)
Abnormal fingernails	Uneori (5–29%)
Abnormality of the toenail	Uneori (5–29%)
Darkened and thickened skin	Uneori (5–29%)
Excessive face hair	Uneori (5–29%)
Underdeveloped toenails	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Short fingers or toes	Întotdeauna
Hypoplasia of proximal radius	Uneori (5–29%)
Partial hip dislocation	Uneori (5–29%)
Short calf bone	Uneori (5–29%)
Small hand	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Abnormality of the respiratory system	Foarte des (80–99%)
Chronic lung disease	Des (30–79%)
Floppy windpipe	Des (30–79%)
Softening of voice box tissue	Des (30–79%)
Subglottic stenosis	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Acid reflux	Des (30–79%)
Constipation	Des (30–79%)
Delayed gastric emptying	Des (30–79%)
Gastrostomy tube feeding in infancy	Des (30–79%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Undescended testes	Întotdeauna
Horseshoe kidney	Des (30–79%)
Vesicoureteral reflux	Des (30–79%)
Hypospadias	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Abnormally shaped skeletal	Foarte des (80–99%)
Abnormal vertebral morphology	Des (30–79%)
Cervical C2/C3 vertebral fusion	Des (30–79%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Global developmental delay	Întotdeauna
Intellectual disability	Foarte des (80–99%)
Pauses in breathing while sleeping	Des (30–79%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Decreased response to growth hormone stimulation test	Uneori (5–29%)
Underactive thyroid	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Aspiration pneumonia	Des (30–79%)
Asthma	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Obesity	Întotdeauna
Short stature	Întotdeauna

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Enlarged male breast	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
High blood sugar	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 AFF4 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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