Traits

Traits linked to CA4

carbonic anhydrase 4

The Human Phenotype Ontology links 31 traits to CA4, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	Cât de frecvent apare
Abnormal electroretinogram	Foarte des (80–99%)
Abnormal retinal pigmentation	Foarte des (80–99%)
Blindness	Foarte des (80–99%)
Extreme sensitivity of the eyes to light	Foarte des (80–99%)
Involuntary, rapid, rhythmic eye movements	Foarte des (80–99%)
Optic atrophy	Foarte des (80–99%)
Progressive night blindness	Foarte des (80–99%)
Retina degeneration	Foarte des (80–99%)
Spicular pigmentation of the retina	Foarte des (80–99%)
Visual impairment	Foarte des (80–99%)
Abnormal central response of multifocal electroretinogram	Des (30–79%)
Abnormal full-field electroretinogram	Des (30–79%)
Bulging cornea	Des (30–79%)
Cystoid macular edema	Des (30–79%)
Difficulties with night vision	Des (30–79%)
Eye muscle paralysis	Des (30–79%)
Glaucoma	Des (30–79%)
Loss of peripheral vision	Des (30–79%)
Optic disc drusen	Des (30–79%)
Optic disc pallor	Des (30–79%)
Photoreceptor outer segment loss on macular OCT	Des (30–79%)
Posterior subcapsular cataract	Des (30–79%)
Retinal atrophy	Des (30–79%)
Abnormal color vision	Uneori (5–29%)
Decreased clarity of vision	Uneori (5–29%)
Photopsia	Uneori (5–29%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Abnormality of retina blood vessels	Foarte des (80–99%)
Narrowing of blood vessels in back of eye	Des (30–79%)

Abnormality of the ear

Trait	Cât de frecvent apare
Conductive deafness	Foarte des (80–99%)
Sensorineural hearing impairment	Foarte des (80–99%)

Laboratory abnormality

Trait	Cât de frecvent apare
Hyperinsulinemia	Des (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

The Human Phenotype Ontology, release 2026-09-01: the traits linked to CA4 and how often each is seen. Find out more at hpo.jax.org.

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