Traits

Traits linked to TUB

TUB bipartite transcription factor

The Human Phenotype Ontology links 39 traits to TUB, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Astigmatism	Alati
Breakdown of light-sensitive cells in back of eye	Alati
Close sighted	Alati
Decreased clarity of vision	Alati
Peripapillary atrophy	Alati
Retinal detachment	Alati
Retinal dots	Alati
Retinal pigment epithelial atrophy	Alati
Visual impairment	Alati
Abnormal electroretinogram	Väga sageli (80–99%)
Abnormal retinal pigmentation	Väga sageli (80–99%)
Blindness	Väga sageli (80–99%)
Extreme sensitivity of the eyes to light	Väga sageli (80–99%)
Involuntary, rapid, rhythmic eye movements	Väga sageli (80–99%)
Optic atrophy	Väga sageli (80–99%)
Progressive night blindness	Väga sageli (80–99%)
Retina degeneration	Väga sageli (80–99%)
Spicular pigmentation of the retina	Väga sageli (80–99%)
Abnormal central response of multifocal electroretinogram	Sageli (30–79%)
Abnormal full-field electroretinogram	Sageli (30–79%)
Bulging cornea	Sageli (30–79%)
Cystoid macular edema	Sageli (30–79%)
Difficulties with night vision	Sageli (30–79%)
Eye muscle paralysis	Sageli (30–79%)
Glaucoma	Sageli (30–79%)
Loss of peripheral vision	Sageli (30–79%)
Optic disc drusen	Sageli (30–79%)
Optic disc pallor	Sageli (30–79%)
Photoreceptor outer segment loss on macular OCT	Sageli (30–79%)
Posterior subcapsular cataract	Sageli (30–79%)
Retinal atrophy	Sageli (30–79%)
Abnormal color vision	Mõnikord (5–29%)
Photopsia	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
Narrowing of blood vessels in back of eye	Alati
Abnormality of retina blood vessels	Väga sageli (80–99%)

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Conductive deafness	Väga sageli (80–99%)
Sensorineural hearing impairment	Väga sageli (80–99%)

Growth abnormality

Trait	Kui sageli seda täheldatakse
Obesity	Alati

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
Hyperinsulinemia	Sageli (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 TUB and how often each is seen. Find out more at hpo.jax.org.

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