Traits

Traits linked to AFF4

ALF transcription elongation factor 4

The Human Phenotype Ontology links 89 traits to AFF4, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Coarse facial features	Visada
Monobrow	Visada
Thick eyebrow	Visada
Highly arched eyebrow	Labai dažnai (80–99%)
Long eyelashes	Labai dažnai (80–99%)
Nasal tip, upturned	Labai dažnai (80–99%)
Abnormally small head	Dažnai (30–79%)
Downturned corners of mouth	Dažnai (30–79%)
High, narrow palate	Dažnai (30–79%)
Long philtrum	Dažnai (30–79%)
Round face	Dažnai (30–79%)
Short nose	Dažnai (30–79%)
Abnormally large tongue	Kartais (5–29%)
Asymmetry of the posterior head	Kartais (5–29%)
Downward slanting of the opening between the eyelids	Kartais (5–29%)
Extra bones within cranial sutures	Kartais (5–29%)
Full cheeks	Kartais (5–29%)
High palate	Kartais (5–29%)
Little lower jaw	Kartais (5–29%)
Narrow forehead	Kartais (5–29%)
Retraction of the tongue	Kartais (5–29%)
Thin red part of the upper lip	Kartais (5–29%)
Vertical forehead creases	Kartais (5–29%)

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Patent ductus arteriosus	Visada
Abnormality of the heart	Dažnai (30–79%)
Anomalous pulmonary venous return	Dažnai (30–79%)
Hole in heart wall separating two lower heart chambers	Dažnai (30–79%)
Increased spleen size	Dažnai (30–79%)
Patent foramen ovale	Dažnai (30–79%)
Bulge in wall of root of large artery that carries blood away from heart	Kartais (5–29%)
Cardiac failure	Kartais (5–29%)
Increased blood pressure in blood vessels of lungs	Kartais (5–29%)

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Bulging eye	Dažnai (30–79%)
Clouding of the lens of the eye	Dažnai (30–79%)
Optic atrophy	Dažnai (30–79%)
Wide-set eyes	Dažnai (30–79%)
Close sighted	Kartais (5–29%)
Cross-eyed	Kartais (5–29%)
Drooping upper eyelid	Kartais (5–29%)
Exophoria	Kartais (5–29%)
Lazy eye	Kartais (5–29%)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Hearing impairment	Dažnai (30–79%)
Thickened helices	Dažnai (30–79%)
Conductive deafness	Kartais (5–29%)
Cupped ear	Kartais (5–29%)
Ears rotated toward back of head	Kartais (5–29%)
Mixed hearing impairment	Kartais (5–29%)
Sensorineural hearing impairment	Kartais (5–29%)
Thickened ears	Kartais (5–29%)

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Coarse hair	Dažnai (30–79%)
Curly hair	Dažnai (30–79%)
Thick hair	Dažnai (30–79%)
Abnormal fingernails	Kartais (5–29%)
Abnormality of the toenail	Kartais (5–29%)
Darkened and thickened skin	Kartais (5–29%)
Excessive face hair	Kartais (5–29%)
Underdeveloped toenails	Kartais (5–29%)

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Short fingers or toes	Visada
Hypoplasia of proximal radius	Kartais (5–29%)
Partial hip dislocation	Kartais (5–29%)
Short calf bone	Kartais (5–29%)
Small hand	Kartais (5–29%)

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Abnormality of the respiratory system	Labai dažnai (80–99%)
Chronic lung disease	Dažnai (30–79%)
Floppy windpipe	Dažnai (30–79%)
Softening of voice box tissue	Dažnai (30–79%)
Subglottic stenosis	Kartais (5–29%)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Acid reflux	Dažnai (30–79%)
Constipation	Dažnai (30–79%)
Delayed gastric emptying	Dažnai (30–79%)
Gastrostomy tube feeding in infancy	Dažnai (30–79%)

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Undescended testes	Visada
Horseshoe kidney	Dažnai (30–79%)
Vesicoureteral reflux	Dažnai (30–79%)
Hypospadias	Kartais (5–29%)

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Abnormally shaped skeletal	Labai dažnai (80–99%)
Abnormal vertebral morphology	Dažnai (30–79%)
Cervical C2/C3 vertebral fusion	Dažnai (30–79%)

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Global developmental delay	Visada
Intellectual disability	Labai dažnai (80–99%)
Pauses in breathing while sleeping	Dažnai (30–79%)

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Decreased response to growth hormone stimulation test	Kartais (5–29%)
Underactive thyroid	Kartais (5–29%)

Abnormality of the immune system

Trait	Kaip dažnai pasireiškia
Aspiration pneumonia	Dažnai (30–79%)
Asthma	Kartais (5–29%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Obesity	Visada
Short stature	Visada

Abnormality of the breast

Trait	Kaip dažnai pasireiškia
Enlarged male breast	Kartais (5–29%)

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
High blood sugar	Kartais (5–29%)

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

The Human Phenotype Ontology, release 2026-09-01: the traits linked to AFF4 and how often each is seen. Find out more at hpo.jax.org.

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