Traits

Traits linked to TFE3

transcription factor binding to IGHM enhancer 3

The Human Phenotype Ontology links 62 traits to TFE3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Cât de frecvent apare
Absent speech development	Întotdeauna
Difficulty sleeping	Întotdeauna
Global developmental delay	Întotdeauna
Intellectual disability	Întotdeauna
Intellectual disability, severe	Întotdeauna
Repetitive movements	Întotdeauna
Epilepsy	Foarte des (80–99%)
Aggressive behavior	Des (30–79%)
Autism spectrum disorder	Des (30–79%)
EEG with central focal spikes	Des (30–79%)
EEG with occipital focal spikes	Des (30–79%)
EEG with parietal focal spikes	Des (30–79%)
Multifocal seizures	Des (30–79%)
Short attention span	Des (30–79%)
Loss of developmental milestones	Uneori (5–29%)
Delayed speech and language development	Neînregistrat

Abnormality of head or neck

Trait	Cât de frecvent apare
Drooping lower lip	Întotdeauna
Coarse facial features	Foarte des (80–99%)
Big calvaria	Des (30–79%)
Depressed nasal bridge	Des (30–79%)
Downward slanting of the opening between the eyelids	Des (30–79%)
Eye folds	Des (30–79%)
Full cheeks	Des (30–79%)
Full lips	Des (30–79%)
Monobrow	Des (30–79%)
Open mouth	Des (30–79%)
Zygomatic flattening	Des (30–79%)
Cleft lip	Uneori (5–29%)
Cleft nasal bridge	Uneori (5–29%)
Cleft palate	Uneori (5–29%)

Abnormality of limbs

Trait	Cât de frecvent apare
Broad shaft of long bone	Des (30–79%)
Dropped arches	Des (30–79%)
Tapered finger	Des (30–79%)
Wide long bones of hand	Des (30–79%)
Club feet	Uneori (5–29%)
Hip dislocation	Uneori (5–29%)
Knock knees	Uneori (5–29%)
Limited elbow extension	Uneori (5–29%)

Abnormality of the eye

Trait	Cât de frecvent apare
Wide-set eyes	Foarte des (80–99%)
Close sighted	Des (30–79%)
Cross-eyed	Des (30–79%)
Drooping upper eyelid	Des (30–79%)
Lazy eye	Des (30–79%)
Myopic astigmatism	Des (30–79%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Gallstones	Întotdeauna
Chronic constipation	Des (30–79%)
Enlarged liver	Des (30–79%)
Gallbladder inflammation	Des (30–79%)
Umbilical hernia	Des (30–79%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Low muscle tone	Întotdeauna
Broad ribs	Des (30–79%)
Prominent swayback	Des (30–79%)
Abnormal formation of the hip	Uneori (5–29%)

Abnormality of the ear

Trait	Cât de frecvent apare
Recurrent middle ear infection	Întotdeauna
Ears rotated toward back of head	Des (30–79%)

Abnormality of the integument

Trait	Cât de frecvent apare
Patchy lightened skin	Foarte des (80–99%)
Darkened and thickened skin	Des (30–79%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Enlarged liver and spleen	Des (30–79%)

Abnormality of the endocrine system

Trait	Cât de frecvent apare
Early onset of puberty	Des (30–79%)

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Cancer starting in small tubes in kidneys	Neînregistrat

Growth abnormality

Trait	Cât de frecvent apare
Obesity	Des (30–79%)

Laboratory abnormality

Trait	Cât de frecvent apare
Low blood sugar	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

The Human Phenotype Ontology, release 2026-09-01: the traits linked to TFE3 and how often each is seen. Find out more at hpo.jax.org.

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