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	Hvor ofte den forekommer
Absent speech development	Alltid
Difficulty sleeping	Alltid
Global developmental delay	Alltid
Intellectual disability	Alltid
Intellectual disability, severe	Alltid
Repetitive movements	Alltid
Epilepsy	Svært ofte (80–99 %)
Aggressive behavior	Ofte (30–79 %)
Autism spectrum disorder	Ofte (30–79 %)
EEG with central focal spikes	Ofte (30–79 %)
EEG with occipital focal spikes	Ofte (30–79 %)
EEG with parietal focal spikes	Ofte (30–79 %)
Multifocal seizures	Ofte (30–79 %)
Short attention span	Ofte (30–79 %)
Loss of developmental milestones	Noen ganger (5–29 %)
Delayed speech and language development	Ikke registrert

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Drooping lower lip	Alltid
Coarse facial features	Svært ofte (80–99 %)
Big calvaria	Ofte (30–79 %)
Depressed nasal bridge	Ofte (30–79 %)
Downward slanting of the opening between the eyelids	Ofte (30–79 %)
Eye folds	Ofte (30–79 %)
Full cheeks	Ofte (30–79 %)
Full lips	Ofte (30–79 %)
Monobrow	Ofte (30–79 %)
Open mouth	Ofte (30–79 %)
Zygomatic flattening	Ofte (30–79 %)
Cleft lip	Noen ganger (5–29 %)
Cleft nasal bridge	Noen ganger (5–29 %)
Cleft palate	Noen ganger (5–29 %)

Abnormality of limbs

Trait	Hvor ofte den forekommer
Broad shaft of long bone	Ofte (30–79 %)
Dropped arches	Ofte (30–79 %)
Tapered finger	Ofte (30–79 %)
Wide long bones of hand	Ofte (30–79 %)
Club feet	Noen ganger (5–29 %)
Hip dislocation	Noen ganger (5–29 %)
Knock knees	Noen ganger (5–29 %)
Limited elbow extension	Noen ganger (5–29 %)

Abnormality of the eye

Trait	Hvor ofte den forekommer
Wide-set eyes	Svært ofte (80–99 %)
Close sighted	Ofte (30–79 %)
Cross-eyed	Ofte (30–79 %)
Drooping upper eyelid	Ofte (30–79 %)
Lazy eye	Ofte (30–79 %)
Myopic astigmatism	Ofte (30–79 %)

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Gallstones	Alltid
Chronic constipation	Ofte (30–79 %)
Enlarged liver	Ofte (30–79 %)
Gallbladder inflammation	Ofte (30–79 %)
Umbilical hernia	Ofte (30–79 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Low muscle tone	Alltid
Broad ribs	Ofte (30–79 %)
Prominent swayback	Ofte (30–79 %)
Abnormal formation of the hip	Noen ganger (5–29 %)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Recurrent middle ear infection	Alltid
Ears rotated toward back of head	Ofte (30–79 %)

Abnormality of the integument

Trait	Hvor ofte den forekommer
Patchy lightened skin	Svært ofte (80–99 %)
Darkened and thickened skin	Ofte (30–79 %)

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Enlarged liver and spleen	Ofte (30–79 %)

Abnormality of the endocrine system

Trait	Hvor ofte den forekommer
Early onset of puberty	Ofte (30–79 %)

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Cancer starting in small tubes in kidneys	Ikke registrert

Growth abnormality

Trait	Hvor ofte den forekommer
Obesity	Ofte (30–79 %)

Laboratory abnormality

Trait	Hvor ofte den forekommer
Low blood sugar	Ofte (30–79 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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