Traits

Traits linked to TOPORS

TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase

The Human Phenotype Ontology links 84 traits to TOPORS, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Abnormal electroretinogram	Labai dažnai (80–99%)
Abnormal retinal pigmentation	Labai dažnai (80–99%)
Blindness	Labai dažnai (80–99%)
Extreme sensitivity of the eyes to light	Labai dažnai (80–99%)
Involuntary, rapid, rhythmic eye movements	Labai dažnai (80–99%)
Optic atrophy	Labai dažnai (80–99%)
Progressive night blindness	Labai dažnai (80–99%)
Retina degeneration	Labai dažnai (80–99%)
Spicular pigmentation of the retina	Labai dažnai (80–99%)
Visual impairment	Labai dažnai (80–99%)
Abnormal central response of multifocal electroretinogram	Dažnai (30–79%)
Abnormal full-field electroretinogram	Dažnai (30–79%)
Bulging cornea	Dažnai (30–79%)
Cystoid macular edema	Dažnai (30–79%)
Difficulties with night vision	Dažnai (30–79%)
Eye muscle paralysis	Dažnai (30–79%)
Glaucoma	Dažnai (30–79%)
Inward turning cross eyed	Dažnai (30–79%)
Loss of peripheral vision	Dažnai (30–79%)
Optic disc drusen	Dažnai (30–79%)
Optic disc pallor	Dažnai (30–79%)
Partial loss of field of vision	Dažnai (30–79%)
Photoreceptor outer segment loss on macular OCT	Dažnai (30–79%)
Posterior subcapsular cataract	Dažnai (30–79%)
Retinal atrophy	Dažnai (30–79%)
Wide-set eyes	Dažnai (30–79%)
Abnormal color vision	Kartais (5–29%)
Decreased clarity of vision	Kartais (5–29%)
Photopsia	Kartais (5–29%)
Retinal pigment epithelial atrophy	Neužfiksuota
Rod-cone dystrophy	Neužfiksuota

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Abnormal oral frenulum morphology	Dažnai (30–79%)
Broad nasal tip	Dažnai (30–79%)
Bumpy tongue	Dažnai (30–79%)
Cleft palate	Dažnai (30–79%)
Decreased width of the skull	Dažnai (30–79%)
Eye folds	Dažnai (30–79%)
Frontal bossing	Dažnai (30–79%)
Hamartoma of tongue	Dažnai (30–79%)
High palate	Dažnai (30–79%)
Little lower jaw	Dažnai (30–79%)
Long face	Dažnai (30–79%)
Tongue nodules	Dažnai (30–79%)
Highly arched eyebrow	Kartais (5–29%)
Midline notch of upper alveolar ridge	Kartais (5–29%)
Prominent nasal bridge	Kartais (5–29%)

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Abnormal gait	Dažnai (30–79%)
Ataxia	Dažnai (30–79%)
Global developmental delay	Dažnai (30–79%)
Hypoplasia of olfactory tract	Dažnai (30–79%)
Intellectual disability	Dažnai (30–79%)
Molar tooth sign on MRI	Dažnai (30–79%)
Abnormality of neuronal migration	Kartais (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Kartais (5–29%)
Cerebellar vermis hypoplasia	Kartais (5–29%)
Epilepsy	Kartais (5–29%)
Hypothalamic hamartoma	Kartais (5–29%)
Tremor	Kartais (5–29%)

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Curvature of finger	Dažnai (30–79%)
Preaxial polydactyly	Dažnai (30–79%)
Short fingers or toes	Dažnai (30–79%)
Webbed fingers or toes	Dažnai (30–79%)
Duplication of bones of the toes	Kartais (5–29%)
Extra finger	Kartais (5–29%)
Mesoaxial polydactyly	Kartais (5–29%)
Y-shaped central long bones of hand	Kartais (5–29%)

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Abnormality of retina blood vessels	Labai dažnai (80–99%)
Narrowing of blood vessels in back of eye	Dažnai (30–79%)
Abnormality of the heart	Kartais (5–29%)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Conductive deafness	Labai dažnai (80–99%)
Sensorineural hearing impairment	Labai dažnai (80–99%)
Ears rotated toward back of head	Dažnai (30–79%)

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Bilateral cryptorchidism	Dažnai (30–79%)
Absent kidney	Kartais (5–29%)
Absent/small kidney	Kartais (5–29%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Faltering weight	Dažnai (30–79%)
Growth delay	Dažnai (30–79%)
Short stature	Dažnai (30–79%)

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Generalized decreased muscle tone	Dažnai (30–79%)
Low muscle tone	Dažnai (30–79%)

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Apnea	Kartais (5–29%)
Episodic tachypnea	Kartais (5–29%)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Feeding difficulties in infancy	Dažnai (30–79%)

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Hyperinsulinemia	Dažnai (30–79%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

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

Vienas testas. Atsakymai visam gyvenimui.

Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites

Įsigyti savo Genome Test