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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

TraitKui sageli seda täheldatakse
Absent speech developmentAlati
Difficulty sleepingAlati
Global developmental delayAlati
Intellectual disabilityAlati
Intellectual disability, severeAlati
Repetitive movementsAlati
EpilepsyVäga sageli (80–99%)
Aggressive behaviorSageli (30–79%)
Autism spectrum disorderSageli (30–79%)
EEG with central focal spikesSageli (30–79%)
EEG with occipital focal spikesSageli (30–79%)
EEG with parietal focal spikesSageli (30–79%)
Multifocal seizuresSageli (30–79%)
Short attention spanSageli (30–79%)
Loss of developmental milestonesMõnikord (5–29%)
Delayed speech and language developmentPole registreeritud

Abnormality of head or neck

TraitKui sageli seda täheldatakse
Drooping lower lipAlati
Coarse facial featuresVäga sageli (80–99%)
Big calvariaSageli (30–79%)
Depressed nasal bridgeSageli (30–79%)
Downward slanting of the opening between the eyelidsSageli (30–79%)
Eye foldsSageli (30–79%)
Full cheeksSageli (30–79%)
Full lipsSageli (30–79%)
MonobrowSageli (30–79%)
Open mouthSageli (30–79%)
Zygomatic flatteningSageli (30–79%)
Cleft lipMõnikord (5–29%)
Cleft nasal bridgeMõnikord (5–29%)
Cleft palateMõnikord (5–29%)

Abnormality of limbs

TraitKui sageli seda täheldatakse
Broad shaft of long boneSageli (30–79%)
Dropped archesSageli (30–79%)
Tapered fingerSageli (30–79%)
Wide long bones of handSageli (30–79%)
Club feetMõnikord (5–29%)
Hip dislocationMõnikord (5–29%)
Knock kneesMõnikord (5–29%)
Limited elbow extensionMõnikord (5–29%)

Abnormality of the eye

TraitKui sageli seda täheldatakse
Wide-set eyesVäga sageli (80–99%)
Close sightedSageli (30–79%)
Cross-eyedSageli (30–79%)
Drooping upper eyelidSageli (30–79%)
Lazy eyeSageli (30–79%)
Myopic astigmatismSageli (30–79%)

Abnormality of the digestive system

TraitKui sageli seda täheldatakse
GallstonesAlati
Chronic constipationSageli (30–79%)
Enlarged liverSageli (30–79%)
Gallbladder inflammationSageli (30–79%)
Umbilical herniaSageli (30–79%)

Abnormality of the musculoskeletal system

TraitKui sageli seda täheldatakse
Low muscle toneAlati
Broad ribsSageli (30–79%)
Prominent swaybackSageli (30–79%)
Abnormal formation of the hipMõnikord (5–29%)

Abnormality of the ear

TraitKui sageli seda täheldatakse
Recurrent middle ear infectionAlati
Ears rotated toward back of headSageli (30–79%)

Abnormality of the integument

TraitKui sageli seda täheldatakse
Patchy lightened skinVäga sageli (80–99%)
Darkened and thickened skinSageli (30–79%)

Abnormality of the cardiovascular system

TraitKui sageli seda täheldatakse
Enlarged liver and spleenSageli (30–79%)

Abnormality of the endocrine system

TraitKui sageli seda täheldatakse
Early onset of pubertySageli (30–79%)

Abnormality of the genitourinary system

TraitKui sageli seda täheldatakse
Cancer starting in small tubes in kidneysPole registreeritud

Growth abnormality

TraitKui sageli seda täheldatakse
ObesitySageli (30–79%)

Laboratory abnormality

TraitKui sageli seda täheldatakse
Low blood sugarSageli (30–79%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

  • 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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