Trăsături

Trăsături asociate cu CEP290

centrosomal protein 290

Human Phenotype Ontology asociază 200 trăsături cu CEP290, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

CEP290

Abnormality of the eye

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

Abnormality of the nervous system

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

Abnormality of the genitourinary system

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

Abnormality of head or neck

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

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Extra little finger	Foarte des (80–99%)
Extra toe attached near the little toe	Foarte des (80–99%)
Postaxial polydactyly	Des (30–79%)
Short fingers or toes	Des (30–79%)
Talipes	Des (30–79%)
Bowing of the long bones	Uneori (5–29%)
Club feet	Uneori (5–29%)
Duplication of bones of the toes	Uneori (5–29%)
Extra finger	Uneori (5–29%)
Extra thumb	Uneori (5–29%)
Finger syndactyly	Uneori (5–29%)
Webbed fingers or toes	Uneori (5–29%)
Curvature of outermost bone of little finger	Rar (1–4%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Excessive buildup of connective tissue and scarring of liver at birth	Foarte des (80–99%)
Abnormality of the gastrointestinal tract	Uneori (5–29%)
Cystic liver disease	Uneori (5–29%)
Enlarged colon lacking nerve cells	Uneori (5–29%)
Hepatic fibrosis	Uneori (5–29%)
Pancreatic cysts	Uneori (5–29%)
Pancreatic fibrosis	Uneori (5–29%)
Celiac disease	Rar (1–4%)
Inflammation of the large intestine	Rar (1–4%)
Bile duct proliferation	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
High blood pressure	Foarte des (80–99%)
Abnormal cardiovascular system morphology	Uneori (5–29%)
Abnormality of the heart	Uneori (5–29%)
Absent spleen	Uneori (5–29%)
Accessory spleen	Uneori (5–29%)
All organs on wrong side of body	Uneori (5–29%)
Disease of the heart muscle	Rar (1–4%)
An opening in the wall separating the top two chambers of the heart	Neînregistrat
Hole in heart wall separating two lower heart chambers	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Întotdeauna
Abnormality of bone mineral density	Uneori (5–29%)
Cone-shaped end part of bone	Uneori (5–29%)
Double-Jointed	Uneori (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Uneori (5–29%)
Muscle degeneration	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Generalized decreased muscle tone	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Decreased circulating high-density lipoprotein cholesterol	Des (30–79%)
High liver enzymes	Des (30–79%)
Impaired fasting glucose	Des (30–79%)
Increased plasma triglycerides	Des (30–79%)
Body fails to respond to insulin	Uneori (5–29%)
Fatty infiltration of liver	Uneori (5–29%)
Noninsulin-dependent diabetes	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Apnea	Foarte des (80–99%)
Increased respiratory rate or depth of breathing	Foarte des (80–99%)
Central apnea	Neînregistrat
Episodic tachypnea	Neînregistrat
Impaired breathing in newborn	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	Des (30–79%)
Hearing impairment	Uneori (5–29%)
Large ears	Uneori (5–29%)
Middle ear infection	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Decreased activity of gonads	Des (30–79%)
Abnormality of the endocrine system	Uneori (5–29%)
Abnormality of the hypothalamus-pituitary axis	Uneori (5–29%)
Underactive thyroid	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Obesity	Întotdeauna
Childhood-onset truncal obesity	Foarte des (80–99%)
Short stature	Foarte des (80–99%)
Prenatal growth deficiency	Neînregistrat

Abnormality of prenatal development or birth

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

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Asthma	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Excessive hairiness over body	Uneori (5–29%)

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

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu CEP290 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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