Trăsături

Trăsături asociate cu RPGR

retinitis pigmentosa GTPase regulator

Human Phenotype Ontology asociază 105 trăsături cu RPGR, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Decreased clarity of vision	Întotdeauna
Difficulties with night vision	Întotdeauna
Extreme sensitivity of the eyes to light	Întotdeauna
Perifoveal hypoautofluorescence	Întotdeauna
Spicular pigmentation of the retina	Întotdeauna
Abnormal color vision	Foarte des (80–99%)
Abnormal electroretinogram	Foarte des (80–99%)
Abnormal retinal pigmentation	Foarte des (80–99%)
Abnormality of refraction	Foarte des (80–99%)
Blindness	Foarte des (80–99%)
Color vision test abnormality	Foarte des (80–99%)
Inner retinal layer loss on macular OCT	Foarte des (80–99%)
Involuntary, rapid, rhythmic eye movements	Foarte des (80–99%)
Limited peripheral vision	Foarte des (80–99%)
Optic atrophy	Foarte des (80–99%)
Pendular nystagmus	Foarte des (80–99%)
Progressive night blindness	Foarte des (80–99%)
Retina degeneration	Foarte des (80–99%)
Total colorblindness	Foarte des (80–99%)
Undetectable light-adapted electroretinogram	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%)
Absent foveal reflex	Des (30–79%)
Blind spot located at fixation point	Des (30–79%)
Bulging cornea	Des (30–79%)
Close sighted	Des (30–79%)
Color blindness	Des (30–79%)
Cystoid macular edema	Des (30–79%)
Eye muscle paralysis	Des (30–79%)
Farsightedness	Des (30–79%)
Glaucoma	Des (30–79%)
Hypoplasia of the fovea	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%)
Progressive loss of vision	Des (30–79%)
Retinal atrophy	Des (30–79%)
Severe near sightedness	Des (30–79%)
Abnormal macular morphology	Uneori (5–29%)
Abnormal pupillary light reflex	Uneori (5–29%)
Eccentric visual fixation	Uneori (5–29%)
Metamorphopsia	Uneori (5–29%)
Photopsia	Uneori (5–29%)
Retinal pigment epithelial mottling	Uneori (5–29%)
Ring scotoma	Uneori (5–29%)
Retinal pigment epithelial atrophy	Rar (1–4%)
Rod-cone dystrophy	Rar (1–4%)
Hypoautofluorescent macular lesion	Neînregistrat
Macular degeneration	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormality of retina blood vessels	Foarte des (80–99%)
Narrowing of blood vessels in back of eye	Des (30–79%)
Abnormal cardiovascular system morphology	Uneori (5–29%)
Abnormality of the heart	Uneori (5–29%)
All organs on wrong side of body	Uneori (5–29%)
Abnormal inferior vena cava morphology	Rar (1–4%)
Abnormal location of heart atrium	Rar (1–4%)
Absent spleen	Rar (1–4%)
Anomalous pulmonary venous return	Rar (1–4%)
Atrial situs ambiguous	Rar (1–4%)
Double outlet right ventricle	Rar (1–4%)
Multiple small spleens	Rar (1–4%)
Persistent left superior vena cava	Rar (1–4%)
Transposition of the great arteries	Rar (1–4%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Abnormal sputum	Des (30–79%)
Neonatal respiratory distress	Des (30–79%)
Respiratory tract infection	Des (30–79%)
Wet cough	Des (30–79%)
Lithoptysis	Uneori (5–29%)
Obstructive lung disease	Uneori (5–29%)
Partial or complete collapse of part or entire lung	Uneori (5–29%)
Peribronchovascular interstitial thickening	Uneori (5–29%)
Permanent enlargement of the airways of the lungs	Uneori (5–29%)
Pulmonary situs ambiguus	Uneori (5–29%)
Wheezing	Uneori (5–29%)
Respiratory failure	Rar (1–4%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Conductive deafness	Foarte des (80–99%)
Sensorineural hearing impairment	Foarte des (80–99%)
Chronic infections of the middle ear	Des (30–79%)
Recurrent middle ear infection	Des (30–79%)
Hearing impairment	Uneori (5–29%)
Hearing loss, high-frequency	Neînregistrat
Middle ear infection	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Blockage of nose	Des (30–79%)
Chronic rhinitis	Des (30–79%)
Chronic sinus disease	Des (30–79%)
Nasal polyposis	Des (30–79%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormal sperm motility	Des (30–79%)
Male infertility	Des (30–79%)
Abnormality of the genitourinary system	Uneori (5–29%)
Female infertility	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent sinus and lung infections	Des (30–79%)
Recurrent mycobacterial infections	Uneori (5–29%)
Recurrent bronchitis	Neînregistrat
Recurrent Haemophilus influenzae infection	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Delayed speech and language development	Uneori (5–29%)
Morphological central nervous system abnormality	Uneori (5–29%)
Too much cerebrospinal fluid in the brain	Rar (1–4%)
Ventriculomegaly	Rar (1–4%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Clubbing of fingers and toes	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Intestinal malrotation	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Abnormality of the skeletal system	Uneori (5–29%)

Laboratory abnormality

Trăsătură	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

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu RPGR și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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