Traits

Traits linked to USH2A

usherin

The Human Phenotype Ontology links 48 traits to USH2A, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Abnormal electroretinogram	Väga sageli (80–99%)
Abnormal retinal pigmentation	Väga sageli (80–99%)
Blind spot	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%)
Light eye color	Väga sageli (80–99%)
Optic atrophy	Väga sageli (80–99%)
Progressive night blindness	Väga sageli (80–99%)
Retina degeneration	Väga sageli (80–99%)
Rod-cone dystrophy	Väga sageli (80–99%)
Spicular pigmentation of the retina	Väga sageli (80–99%)
Visual impairment	Väga sageli (80–99%)
Visual loss	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%)
Close sighted	Sageli (30–79%)
Clouding of the lens of the eye	Sageli (30–79%)
Cystoid macular edema	Sageli (30–79%)
Decreased clarity of vision	Sageli (30–79%)
Difficulties with night vision	Sageli (30–79%)
Eye muscle paralysis	Sageli (30–79%)
Glaucoma	Sageli (30–79%)
Limited peripheral vision	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%)
Reduced contrast sensitivity	Mõnikord (5–29%)
Partial loss of field of vision	Pole registreeritud

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Abnormality of the inner ear	Väga sageli (80–99%)
Conductive deafness	Väga sageli (80–99%)
Sensorineural hearing impairment	Väga sageli (80–99%)
Abnormal vestibular function	Harva (1–4%)
Congenital sensorineural hearing impairment	Pole registreeritud

Abnormality of the nervous system

Trait	Kui sageli seda täheldatakse
Difficulty sleeping	Sageli (30–79%)
Abnormality of balance	Mõnikord (5–29%)
Anxiety	Mõnikord (5–29%)
Depression	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
Abnormality of retina blood vessels	Väga sageli (80–99%)
Narrowing of blood vessels in back of eye	Sageli (30–79%)

Constitutional symptom

Trait	Kui sageli seda täheldatakse
Fatigue	Sageli (30–79%)

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 USH2A and how often each is seen. Find out more at hpo.jax.org.

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