특성

CEP290 연관 특성

centrosomal protein 290

인간 표현형 온톨로지가 CEP290에 연결하는 특성은 200개이며, 신체 계통별로 나뉩니다. 이 특성들은 이 유전자의 희귀 질환 중 하나를 가진 사람들에게서 관찰되는 특징입니다.

Abnormality of the eye

특성	나타나는 빈도
Breakdown of light-sensitive cells in back of eye	항상
Decreased clarity of vision	항상
Involuntary, rapid, rhythmic eye movements	항상
Oculomotor apraxia	항상
Rod-cone dystrophy	항상
Visual impairment	항상
Abnormal optic disc morphology	매우 자주 (80–99%)
Abnormal retinal pigmentation	매우 자주 (80–99%)
Cone/cone-rod dystrophy	매우 자주 (80–99%)
Marked vision impairment	매우 자주 (80–99%)
Abnormal chorioretinal morphology	자주 (30–79%)
Abnormal color vision	자주 (30–79%)
Abnormal electroretinogram	자주 (30–79%)
Abnormal full-field electroretinogram	자주 (30–79%)
Abnormally small eyeball	자주 (30–79%)
Absent/small iris	자주 (30–79%)
Birth defect that causes a hole in the innermost layer at the back of the eye	자주 (30–79%)
Blindness	자주 (30–79%)
Blindness present at birth	자주 (30–79%)
Bulging cornea	자주 (30–79%)
Cat eye	자주 (30–79%)
Clouding of the lens of the eye	자주 (30–79%)
Cornea of eye less than 10mm in diameter	자주 (30–79%)
Difficulties with night vision	자주 (30–79%)
Drooping upper eyelid	자주 (30–79%)
Extreme sensitivity of the eyes to light	자주 (30–79%)
Farsightedness	자주 (30–79%)
Hardening of skin and connective tissue	자주 (30–79%)
Optic atrophy	자주 (30–79%)
Progressive loss of vision	자주 (30–79%)
Slow pupillary light response	자주 (30–79%)
Wide-set eyes	자주 (30–79%)
Absence of eyeballs	가끔 (5–29%)
Astigmatism	가끔 (5–29%)
Cross-eyed	가끔 (5–29%)
Hole in the back of the eye	가끔 (5–29%)
Optic disc drusen	가끔 (5–29%)
Optic disc pallor	가끔 (5–29%)

Abnormality of the nervous system

특성	나타나는 빈도
Aplasia/Hypoplasia of the cerebellar vermis	항상
Ataxia	항상
Global developmental delay	항상
Intellectual disability	항상
Molar tooth sign on MRI	항상
Cerebellar vermis hypoplasia	매우 자주 (80–99%)
Neurodevelopmental delay	매우 자주 (80–99%)
Abnormality of neuronal migration	자주 (30–79%)
Autism	자주 (30–79%)
Autism spectrum disorder	자주 (30–79%)
Behavioral abnormality	자주 (30–79%)
Cognitive impairment	자주 (30–79%)
Depression	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%)
Short attention span	자주 (30–79%)
Specific learning disability	자주 (30–79%)
Abnormal speech pattern	가끔 (5–29%)
Aggressive behavior	가끔 (5–29%)
Anencephaly	가끔 (5–29%)
Anxiety	가끔 (5–29%)
Aplasia/Hypoplasia of the corpus callosum	가끔 (5–29%)
Breathy speech	가끔 (5–29%)
Can't control feelings	가끔 (5–29%)
Delayed speech and language development	가끔 (5–29%)
Motor delay	가끔 (5–29%)
Too much cerebrospinal fluid in the brain	가끔 (5–29%)
Agenesis of cerebellar vermis	기록되지 않음
Meningocele	기록되지 않음
Thickened superior cerebellar peduncle	기록되지 않음
Underdevelopment of part of brain called corpus callosum	기록되지 않음

Abnormality of the genitourinary system

특성	나타나는 빈도
Renal failure	항상
Stage 5 chronic kidney disease	항상
Chronic kidney disease	매우 자주 (80–99%)
Kidney damage	매우 자주 (80–99%)
Multicystic kidney dysplasia	매우 자주 (80–99%)
Abnormality of the genitourinary system	자주 (30–79%)
Ambiguous external genitalia	자주 (30–79%)
Early menopause	자주 (30–79%)
Nephronophthisis	자주 (30–79%)
Renal cortical cysts	자주 (30–79%)
Underdeveloped ovary	자주 (30–79%)
Underdeveloped penis	자주 (30–79%)
Undescended testes	자주 (30–79%)
Absent/small vagina	가끔 (5–29%)
Decreased testicular size	가끔 (5–29%)
Double ureter	가끔 (5–29%)
Horseshoe kidney	가끔 (5–29%)
Hydrometrocolpos	가끔 (5–29%)
Hydronephrosis	가끔 (5–29%)
Infertility	가끔 (5–29%)
Lack of bladder control due to nervous system injury	가끔 (5–29%)
Male pseudohermaphroditism	가끔 (5–29%)
Menstrual irregularity	가끔 (5–29%)
Multiple kidney cysts	가끔 (5–29%)
Nephrotic syndrome	가끔 (5–29%)
Polycystic ovaries	가끔 (5–29%)
Reduced renal corticomedullary differentiation	가끔 (5–29%)
True hermaphroditism	가끔 (5–29%)
Urethral atresia	가끔 (5–29%)
Vesicoureteral reflux	가끔 (5–29%)
Cystic kidney disease	기록되지 않음
Impaired renal concentrating ability	기록되지 않음

Abnormality of head or neck

특성	나타나는 빈도
Abnormally small head	매우 자주 (80–99%)
Encephalocele	매우 자주 (80–99%)
Abnormality of the oral cavity	자주 (30–79%)
Abnormality of the sense of smell	자주 (30–79%)
Cleft palate	자주 (30–79%)
Decreased width of the skull	자주 (30–79%)
Dental crowding	자주 (30–79%)
Failure of development of between one and six teeth	자주 (30–79%)
Flat nose	자주 (30–79%)
Full cheeks	자주 (30–79%)
High palate	자주 (30–79%)
Little lower jaw	자주 (30–79%)
Long face	자주 (30–79%)
Sloping forehead	자주 (30–79%)
Aplasia/Hypoplasia of the tongue	가끔 (5–29%)
Brain tissue sticks out through back of skull	가끔 (5–29%)
Dandy-Walker malformation	가끔 (5–29%)
Decreased size of tooth	가끔 (5–29%)
Depressed nasal bridge	가끔 (5–29%)
Downward slanting of the opening between the eyelids	가끔 (5–29%)
Grooved tongue	가끔 (5–29%)
Highly arched eyebrow	가끔 (5–29%)
Long philtrum	가끔 (5–29%)
Medial flaring of the eyebrow	가끔 (5–29%)
Nasal inflammation	가끔 (5–29%)
Nasal tip, upturned	가끔 (5–29%)
Prominent nasal bridge	가끔 (5–29%)
Receding chin	가끔 (5–29%)
Short neck	가끔 (5–29%)
Hyposmia	기록되지 않음

Abnormality of limbs

특성	나타나는 빈도
Extra little finger	매우 자주 (80–99%)
Extra toe attached near the little toe	매우 자주 (80–99%)
Postaxial polydactyly	자주 (30–79%)
Short fingers or toes	자주 (30–79%)
Talipes	자주 (30–79%)
Bowing of the long bones	가끔 (5–29%)
Club feet	가끔 (5–29%)
Duplication of bones of the toes	가끔 (5–29%)
Extra finger	가끔 (5–29%)
Extra thumb	가끔 (5–29%)
Finger syndactyly	가끔 (5–29%)
Webbed fingers or toes	가끔 (5–29%)
Curvature of outermost bone of little finger	드물게 (1–4%)

Abnormality of the digestive system

특성	나타나는 빈도
Excessive buildup of connective tissue and scarring of liver at birth	매우 자주 (80–99%)
Abnormality of the gastrointestinal tract	가끔 (5–29%)
Cystic liver disease	가끔 (5–29%)
Enlarged colon lacking nerve cells	가끔 (5–29%)
Hepatic fibrosis	가끔 (5–29%)
Pancreatic cysts	가끔 (5–29%)
Pancreatic fibrosis	가끔 (5–29%)
Celiac disease	드물게 (1–4%)
Inflammation of the large intestine	드물게 (1–4%)
Bile duct proliferation	기록되지 않음

Abnormality of the cardiovascular system

특성	나타나는 빈도
High blood pressure	매우 자주 (80–99%)
Abnormal cardiovascular system morphology	가끔 (5–29%)
Abnormality of the heart	가끔 (5–29%)
Absent spleen	가끔 (5–29%)
Accessory spleen	가끔 (5–29%)
All organs on wrong side of body	가끔 (5–29%)
Disease of the heart muscle	드물게 (1–4%)
An opening in the wall separating the top two chambers of the heart	기록되지 않음
Hole in heart wall separating two lower heart chambers	기록되지 않음

Abnormality of the musculoskeletal system

특성	나타나는 빈도
Low muscle tone	항상
Abnormality of bone mineral density	가끔 (5–29%)
Cone-shaped end part of bone	가끔 (5–29%)
Double-Jointed	가끔 (5–29%)
Involuntary muscle stiffness, contraction, or spasm	가끔 (5–29%)
Muscle degeneration	가끔 (5–29%)
Scoliosis	가끔 (5–29%)
Generalized decreased muscle tone	기록되지 않음

Laboratory abnormality

특성	나타나는 빈도
Decreased circulating high-density lipoprotein cholesterol	자주 (30–79%)
High liver enzymes	자주 (30–79%)
Impaired fasting glucose	자주 (30–79%)
Increased plasma triglycerides	자주 (30–79%)
Body fails to respond to insulin	가끔 (5–29%)
Fatty infiltration of liver	가끔 (5–29%)
Noninsulin-dependent diabetes	가끔 (5–29%)

Abnormality of the respiratory system

특성	나타나는 빈도
Apnea	매우 자주 (80–99%)
Increased respiratory rate or depth of breathing	매우 자주 (80–99%)
Central apnea	기록되지 않음
Episodic tachypnea	기록되지 않음
Impaired breathing in newborn	기록되지 않음

Abnormality of the ear

특성	나타나는 빈도
Ears rotated toward back of head	자주 (30–79%)
Hearing impairment	가끔 (5–29%)
Large ears	가끔 (5–29%)
Middle ear infection	가끔 (5–29%)

Abnormality of the endocrine system

특성	나타나는 빈도
Decreased activity of gonads	자주 (30–79%)
Abnormality of the endocrine system	가끔 (5–29%)
Abnormality of the hypothalamus-pituitary axis	가끔 (5–29%)
Underactive thyroid	가끔 (5–29%)

Growth abnormality

특성	나타나는 빈도
Obesity	항상
Childhood-onset truncal obesity	매우 자주 (80–99%)
Short stature	매우 자주 (80–99%)
Prenatal growth deficiency	기록되지 않음

Abnormality of prenatal development or birth

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

Abnormality of the immune system

특성	나타나는 빈도
Asthma	가끔 (5–29%)

Abnormality of the integument

특성	나타나는 빈도
Excessive hairiness over body	가끔 (5–29%)

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

인간 표현형 온톨로지 릴리스 2026-09-01: CEP290에 연결된 특성과 각 특성이 관찰되는 빈도입니다. 자세한 내용은 hpo.jax.org에서 확인해 주세요.

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