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

Abnormality of the nervous system

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

Abnormality of head or neck

Trait	나타나는 빈도
Focal retinal arteriolar constriction	항상
Abnormally small head	매우 자주 (80–99%)
Encephalocele	매우 자주 (80–99%)
Cleft palate	자주 (30–79%)
Flat nose	자주 (30–79%)
Full cheeks	자주 (30–79%)
Little lower jaw	자주 (30–79%)
Sloping forehead	자주 (30–79%)
Aplasia/Hypoplasia of the tongue	가끔 (5–29%)
Dandy-Walker malformation	가끔 (5–29%)
Grooved tongue	가끔 (5–29%)

Abnormality of the genitourinary system

Trait	나타나는 빈도
Multicystic kidney dysplasia	매우 자주 (80–99%)
Ambiguous external genitalia	자주 (30–79%)
Undescended testes	자주 (30–79%)
Double ureter	가끔 (5–29%)
Male pseudohermaphroditism	가끔 (5–29%)
True hermaphroditism	가끔 (5–29%)
Urethral atresia	가끔 (5–29%)

Abnormality of limbs

Trait	나타나는 빈도
Extra little finger	매우 자주 (80–99%)
Extra toe attached near the little toe	매우 자주 (80–99%)
Talipes	자주 (30–79%)
Bowing of the long bones	가끔 (5–29%)
Extra thumb	가끔 (5–29%)

Abnormality of the cardiovascular system

Trait	나타나는 빈도
Narrowing of blood vessels in back of eye	매우 자주 (80–99%)
Abnormal cardiovascular system morphology	가끔 (5–29%)
Absent spleen	가끔 (5–29%)
Accessory spleen	가끔 (5–29%)
All organs on wrong side of body	가끔 (5–29%)

Abnormality of the digestive system

Trait	나타나는 빈도
Excessive buildup of connective tissue and scarring of liver at birth	매우 자주 (80–99%)
Cystic liver disease	가끔 (5–29%)
Pancreatic cysts	가끔 (5–29%)
Pancreatic fibrosis	가끔 (5–29%)

Abnormality of the ear

Trait	나타나는 빈도
Ears rotated toward back of head	자주 (30–79%)
Hearing impairment	가끔 (5–29%)

Abnormality of prenatal development or birth

Trait	나타나는 빈도
Low levels of amniotic fluid	자주 (30–79%)

Abnormality of the musculoskeletal system

Trait	나타나는 빈도
Low muscle tone	자주 (30–79%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

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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