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

Abnormality of the nervous system

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

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Focal retinal arteriolar constriction	Alati
Abnormally small head	Väga sageli (80–99%)
Encephalocele	Väga sageli (80–99%)
Cleft palate	Sageli (30–79%)
Flat nose	Sageli (30–79%)
Full cheeks	Sageli (30–79%)
Little lower jaw	Sageli (30–79%)
Sloping forehead	Sageli (30–79%)
Aplasia/Hypoplasia of the tongue	Mõnikord (5–29%)
Dandy-Walker malformation	Mõnikord (5–29%)
Grooved tongue	Mõnikord (5–29%)

Abnormality of the genitourinary system

Trait	Kui sageli seda täheldatakse
Multicystic kidney dysplasia	Väga sageli (80–99%)
Ambiguous external genitalia	Sageli (30–79%)
Undescended testes	Sageli (30–79%)
Double ureter	Mõnikord (5–29%)
Male pseudohermaphroditism	Mõnikord (5–29%)
True hermaphroditism	Mõnikord (5–29%)
Urethral atresia	Mõnikord (5–29%)

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Extra little finger	Väga sageli (80–99%)
Extra toe attached near the little toe	Väga sageli (80–99%)
Talipes	Sageli (30–79%)
Bowing of the long bones	Mõnikord (5–29%)
Extra thumb	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
Narrowing of blood vessels in back of eye	Väga sageli (80–99%)
Abnormal cardiovascular system morphology	Mõnikord (5–29%)
Absent spleen	Mõnikord (5–29%)
Accessory spleen	Mõnikord (5–29%)
All organs on wrong side of body	Mõnikord (5–29%)

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Excessive buildup of connective tissue and scarring of liver at birth	Väga sageli (80–99%)
Cystic liver disease	Mõnikord (5–29%)
Pancreatic cysts	Mõnikord (5–29%)
Pancreatic fibrosis	Mõnikord (5–29%)

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Ears rotated toward back of head	Sageli (30–79%)
Hearing impairment	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Trait	Kui sageli seda täheldatakse
Low levels of amniotic fluid	Sageli (30–79%)

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Low muscle tone	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 RPGRIP1 and how often each is seen. Find out more at hpo.jax.org.

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