Požymiai

Su CEP290 susiję požymiai

centrosomal protein 290

Žmogaus fenotipo ontologija sieja 200 požymių su CEP290, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

CEP290

Abnormality of the eye

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

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Aplasia/Hypoplasia of the cerebellar vermis	Visada
Ataxia	Visada
Global developmental delay	Visada
Intellectual disability	Visada
Molar tooth sign on MRI	Visada
Cerebellar vermis hypoplasia	Labai dažnai (80–99%)
Neurodevelopmental delay	Labai dažnai (80–99%)
Abnormality of neuronal migration	Dažnai (30–79%)
Autism	Dažnai (30–79%)
Autism spectrum disorder	Dažnai (30–79%)
Behavioral abnormality	Dažnai (30–79%)
Cognitive impairment	Dažnai (30–79%)
Depression	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Eye poking	Dažnai (30–79%)
Lobar holoprosencephaly	Dažnai (30–79%)
Paralysis or weakness of one side of body	Dažnai (30–79%)
Short attention span	Dažnai (30–79%)
Specific learning disability	Dažnai (30–79%)
Abnormal speech pattern	Kartais (5–29%)
Aggressive behavior	Kartais (5–29%)
Anencephaly	Kartais (5–29%)
Anxiety	Kartais (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Kartais (5–29%)
Breathy speech	Kartais (5–29%)
Can't control feelings	Kartais (5–29%)
Delayed speech and language development	Kartais (5–29%)
Motor delay	Kartais (5–29%)
Too much cerebrospinal fluid in the brain	Kartais (5–29%)
Agenesis of cerebellar vermis	Neužfiksuota
Meningocele	Neužfiksuota
Thickened superior cerebellar peduncle	Neužfiksuota
Underdevelopment of part of brain called corpus callosum	Neužfiksuota

Abnormality of the genitourinary system

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

Abnormality of head or neck

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

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Extra little finger	Labai dažnai (80–99%)
Extra toe attached near the little toe	Labai dažnai (80–99%)
Postaxial polydactyly	Dažnai (30–79%)
Short fingers or toes	Dažnai (30–79%)
Talipes	Dažnai (30–79%)
Bowing of the long bones	Kartais (5–29%)
Club feet	Kartais (5–29%)
Duplication of bones of the toes	Kartais (5–29%)
Extra finger	Kartais (5–29%)
Extra thumb	Kartais (5–29%)
Finger syndactyly	Kartais (5–29%)
Webbed fingers or toes	Kartais (5–29%)
Curvature of outermost bone of little finger	Retai (1–4 %)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Excessive buildup of connective tissue and scarring of liver at birth	Labai dažnai (80–99%)
Abnormality of the gastrointestinal tract	Kartais (5–29%)
Cystic liver disease	Kartais (5–29%)
Enlarged colon lacking nerve cells	Kartais (5–29%)
Hepatic fibrosis	Kartais (5–29%)
Pancreatic cysts	Kartais (5–29%)
Pancreatic fibrosis	Kartais (5–29%)
Celiac disease	Retai (1–4 %)
Inflammation of the large intestine	Retai (1–4 %)
Bile duct proliferation	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
High blood pressure	Labai dažnai (80–99%)
Abnormal cardiovascular system morphology	Kartais (5–29%)
Abnormality of the heart	Kartais (5–29%)
Absent spleen	Kartais (5–29%)
Accessory spleen	Kartais (5–29%)
All organs on wrong side of body	Kartais (5–29%)
Disease of the heart muscle	Retai (1–4 %)
An opening in the wall separating the top two chambers of the heart	Neužfiksuota
Hole in heart wall separating two lower heart chambers	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Low muscle tone	Visada
Abnormality of bone mineral density	Kartais (5–29%)
Cone-shaped end part of bone	Kartais (5–29%)
Double-Jointed	Kartais (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Kartais (5–29%)
Muscle degeneration	Kartais (5–29%)
Scoliosis	Kartais (5–29%)
Generalized decreased muscle tone	Neužfiksuota

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Decreased circulating high-density lipoprotein cholesterol	Dažnai (30–79%)
High liver enzymes	Dažnai (30–79%)
Impaired fasting glucose	Dažnai (30–79%)
Increased plasma triglycerides	Dažnai (30–79%)
Body fails to respond to insulin	Kartais (5–29%)
Fatty infiltration of liver	Kartais (5–29%)
Noninsulin-dependent diabetes	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Apnea	Labai dažnai (80–99%)
Increased respiratory rate or depth of breathing	Labai dažnai (80–99%)
Central apnea	Neužfiksuota
Episodic tachypnea	Neužfiksuota
Impaired breathing in newborn	Neužfiksuota

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Ears rotated toward back of head	Dažnai (30–79%)
Hearing impairment	Kartais (5–29%)
Large ears	Kartais (5–29%)
Middle ear infection	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Decreased activity of gonads	Dažnai (30–79%)
Abnormality of the endocrine system	Kartais (5–29%)
Abnormality of the hypothalamus-pituitary axis	Kartais (5–29%)
Underactive thyroid	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Obesity	Visada
Childhood-onset truncal obesity	Labai dažnai (80–99%)
Short stature	Labai dažnai (80–99%)
Prenatal growth deficiency	Neužfiksuota

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Low levels of amniotic fluid	Dažnai (30–79%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Asthma	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Excessive hairiness over body	Kartais (5–29%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su CEP290 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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