Traits

Traits linked to RPGRIP1

RPGR interacting protein 1

The Human Phenotype Ontology links 109 traits to RPGRIP1, 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 color vision	Întotdeauna
Abnormal electroretinogram	Întotdeauna
Abnormal fundus pigmentation	Întotdeauna
Close sighted	Întotdeauna
Decreased clarity of vision	Întotdeauna
Extreme sensitivity of the eyes to light	Întotdeauna
Farsightedness	Întotdeauna
Flat cornea	Întotdeauna
Foveal atrophy	Întotdeauna
Limited peripheral vision	Întotdeauna
Macular degeneration	Întotdeauna
Marked vision impairment	Întotdeauna
Moderate visual impairment	Întotdeauna
Progressive loss of vision	Întotdeauna
Retinal flecks	Întotdeauna
Slow pupillary light response	Întotdeauna
Visual acuity no light perception	Întotdeauna
Abnormal optic disc morphology	Foarte des (80–99%)
Abnormal retinal pigmentation	Foarte des (80–99%)
Chorioretinal atrophy	Foarte des (80–99%)
Cross-eyed	Foarte des (80–99%)
Difficulties with night vision	Foarte des (80–99%)
Involuntary, rapid, rhythmic eye movements	Foarte des (80–99%)
Retina degeneration	Foarte des (80–99%)
Very low visual acuity	Foarte des (80–99%)
Abnormal chorioretinal morphology	Des (30–79%)
Abnormal full-field electroretinogram	Des (30–79%)
Abnormally small eyeball	Des (30–79%)
Absent foveal reflex	Des (30–79%)
Absent/small iris	Des (30–79%)
Blind spot located at fixation point	Des (30–79%)
Bulging cornea	Des (30–79%)
Clouding of the lens of the eye	Des (30–79%)
Color blindness	Des (30–79%)
Cornea of eye less than 10mm in diameter	Des (30–79%)
Hardening of skin and connective tissue	Des (30–79%)
Macular atrophy	Des (30–79%)
Optic atrophy	Des (30–79%)
Optic disc pallor	Des (30–79%)
Posterior subcapsular cataract	Des (30–79%)
Retinal atrophy	Des (30–79%)
Retinal pigment epithelial mottling	Des (30–79%)
Retinal thinning	Des (30–79%)
Spicular pigmentation of the retina	Des (30–79%)
Wide-set eyes	Des (30–79%)
Abnormal vitreous humor morphology	Uneori (5–29%)
Absence of eyeballs	Uneori (5–29%)
Asteroid hyalosis	Uneori (5–29%)
Bull's eye maculopathy	Uneori (5–29%)
Metamorphopsia	Uneori (5–29%)
Mildly reduced visual acuity	Uneori (5–29%)
Optic disc drusen	Uneori (5–29%)
Outward facing eye ball	Uneori (5–29%)
Peripheral retinal atrophy	Uneori (5–29%)
Visual impairment	Uneori (5–29%)
Cone/cone-rod dystrophy	Neînregistrat
Pendular nystagmus	Neînregistrat
Severe farsightedness	Neînregistrat
Undetectable electroretinogram	Neînregistrat
Undetectable light- and dark-adapted electroretinogram	Neînregistrat

Abnormality of the nervous system

Trait	Cât de frecvent apare
Abnormality of neuronal migration	Des (30–79%)
Aplasia/Hypoplasia of the cerebellar vermis	Des (30–79%)
Epilepsy	Des (30–79%)
Eye poking	Des (30–79%)
Lobar holoprosencephaly	Des (30–79%)
Paralysis or weakness of one side of body	Des (30–79%)
Anencephaly	Uneori (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Uneori (5–29%)
Autism spectrum disorder	Uneori (5–29%)
Global developmental delay	Uneori (5–29%)
Intellectual disability	Uneori (5–29%)
Motor delay	Uneori (5–29%)
Too much cerebrospinal fluid in the brain	Uneori (5–29%)

Abnormality of head or neck

Trait	Cât de frecvent apare
Focal retinal arteriolar constriction	Întotdeauna
Abnormally small head	Foarte des (80–99%)
Encephalocele	Foarte des (80–99%)
Cleft palate	Des (30–79%)
Flat nose	Des (30–79%)
Full cheeks	Des (30–79%)
Little lower jaw	Des (30–79%)
Sloping forehead	Des (30–79%)
Aplasia/Hypoplasia of the tongue	Uneori (5–29%)
Dandy-Walker malformation	Uneori (5–29%)
Grooved tongue	Uneori (5–29%)

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Multicystic kidney dysplasia	Foarte des (80–99%)
Ambiguous external genitalia	Des (30–79%)
Undescended testes	Des (30–79%)
Double ureter	Uneori (5–29%)
Male pseudohermaphroditism	Uneori (5–29%)
True hermaphroditism	Uneori (5–29%)
Urethral atresia	Uneori (5–29%)

Abnormality of limbs

Trait	Cât de frecvent apare
Extra little finger	Foarte des (80–99%)
Extra toe attached near the little toe	Foarte des (80–99%)
Talipes	Des (30–79%)
Bowing of the long bones	Uneori (5–29%)
Extra thumb	Uneori (5–29%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Narrowing of blood vessels in back of eye	Foarte des (80–99%)
Abnormal cardiovascular system morphology	Uneori (5–29%)
Absent spleen	Uneori (5–29%)
Accessory spleen	Uneori (5–29%)
All organs on wrong side of body	Uneori (5–29%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Excessive buildup of connective tissue and scarring of liver at birth	Foarte des (80–99%)
Cystic liver disease	Uneori (5–29%)
Pancreatic cysts	Uneori (5–29%)
Pancreatic fibrosis	Uneori (5–29%)

Abnormality of the ear

Trait	Cât de frecvent apare
Ears rotated toward back of head	Des (30–79%)
Hearing impairment	Uneori (5–29%)

Abnormality of prenatal development or birth

Trait	Cât de frecvent apare
Low levels of amniotic fluid	Des (30–79%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Low muscle tone	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 RPGRIP1 and how often each is seen. Find out more at hpo.jax.org.

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