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 det ses
Absent speech development	Altid
Difficulty sleeping	Altid
Global developmental delay	Altid
Intellectual disability	Altid
Intellectual disability, severe	Altid
Repetitive movements	Altid
Epilepsy	Meget 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	Nogle gange (5–29 %)
Delayed speech and language development	Ikke registreret

Abnormality of head or neck

Trait	Hvor ofte det ses
Drooping lower lip	Altid
Coarse facial features	Meget 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	Nogle gange (5–29 %)
Cleft nasal bridge	Nogle gange (5–29 %)
Cleft palate	Nogle gange (5–29 %)

Abnormality of limbs

Trait	Hvor ofte det ses
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	Nogle gange (5–29 %)
Hip dislocation	Nogle gange (5–29 %)
Knock knees	Nogle gange (5–29 %)
Limited elbow extension	Nogle gange (5–29 %)

Abnormality of the eye

Trait	Hvor ofte det ses
Wide-set eyes	Meget 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 det ses
Gallstones	Altid
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 det ses
Low muscle tone	Altid
Broad ribs	Ofte (30–79 %)
Prominent swayback	Ofte (30–79 %)
Abnormal formation of the hip	Nogle gange (5–29 %)

Abnormality of the ear

Trait	Hvor ofte det ses
Recurrent middle ear infection	Altid
Ears rotated toward back of head	Ofte (30–79 %)

Abnormality of the integument

Trait	Hvor ofte det ses
Patchy lightened skin	Meget ofte (80–99 %)
Darkened and thickened skin	Ofte (30–79 %)

Abnormality of the cardiovascular system

Trait	Hvor ofte det ses
Enlarged liver and spleen	Ofte (30–79 %)

Abnormality of the endocrine system

Trait	Hvor ofte det ses
Early onset of puberty	Ofte (30–79 %)

Abnormality of the genitourinary system

Trait	Hvor ofte det ses
Cancer starting in small tubes in kidneys	Ikke registreret

Growth abnormality

Trait	Hvor ofte det ses
Obesity	Ofte (30–79 %)

Laboratory abnormality

Trait	Hvor ofte det ses
Low blood sugar	Ofte (30–79 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

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.

Én test. Svar for hele livet.

Fra 449 $Gratis forsendelse · Resultater på 6–8 uger

Bestil min Genome Test