Tratti

Tratti collegati a CEP290

centrosomal protein 290

La Human Phenotype Ontology collega 200 tratti a CEP290, per sistema corporeo: caratteristiche osservate in persone con una delle condizioni rare del gene.

CEP290

Abnormality of the eye

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

Abnormality of the nervous system

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

Abnormality of the genitourinary system

Tratto	Frequenza di osservazione
Renal failure	Sempre
Stage 5 chronic kidney disease	Sempre
Chronic kidney disease	Molto spesso (80–99%)
Kidney damage	Molto spesso (80–99%)
Multicystic kidney dysplasia	Molto spesso (80–99%)
Abnormality of the genitourinary system	Spesso (30–79%)
Ambiguous external genitalia	Spesso (30–79%)
Early menopause	Spesso (30–79%)
Nephronophthisis	Spesso (30–79%)
Renal cortical cysts	Spesso (30–79%)
Underdeveloped ovary	Spesso (30–79%)
Underdeveloped penis	Spesso (30–79%)
Undescended testes	Spesso (30–79%)
Absent/small vagina	A volte (5–29%)
Decreased testicular size	A volte (5–29%)
Double ureter	A volte (5–29%)
Horseshoe kidney	A volte (5–29%)
Hydrometrocolpos	A volte (5–29%)
Hydronephrosis	A volte (5–29%)
Infertility	A volte (5–29%)
Lack of bladder control due to nervous system injury	A volte (5–29%)
Male pseudohermaphroditism	A volte (5–29%)
Menstrual irregularity	A volte (5–29%)
Multiple kidney cysts	A volte (5–29%)
Nephrotic syndrome	A volte (5–29%)
Polycystic ovaries	A volte (5–29%)
Reduced renal corticomedullary differentiation	A volte (5–29%)
True hermaphroditism	A volte (5–29%)
Urethral atresia	A volte (5–29%)
Vesicoureteral reflux	A volte (5–29%)
Cystic kidney disease	Non registrato
Impaired renal concentrating ability	Non registrato

Abnormality of head or neck

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

Abnormality of limbs

Tratto	Frequenza di osservazione
Extra little finger	Molto spesso (80–99%)
Extra toe attached near the little toe	Molto spesso (80–99%)
Postaxial polydactyly	Spesso (30–79%)
Short fingers or toes	Spesso (30–79%)
Talipes	Spesso (30–79%)
Bowing of the long bones	A volte (5–29%)
Club feet	A volte (5–29%)
Duplication of bones of the toes	A volte (5–29%)
Extra finger	A volte (5–29%)
Extra thumb	A volte (5–29%)
Finger syndactyly	A volte (5–29%)
Webbed fingers or toes	A volte (5–29%)
Curvature of outermost bone of little finger	Raramente (1–4%)

Abnormality of the digestive system

Tratto	Frequenza di osservazione
Excessive buildup of connective tissue and scarring of liver at birth	Molto spesso (80–99%)
Abnormality of the gastrointestinal tract	A volte (5–29%)
Cystic liver disease	A volte (5–29%)
Enlarged colon lacking nerve cells	A volte (5–29%)
Hepatic fibrosis	A volte (5–29%)
Pancreatic cysts	A volte (5–29%)
Pancreatic fibrosis	A volte (5–29%)
Celiac disease	Raramente (1–4%)
Inflammation of the large intestine	Raramente (1–4%)
Bile duct proliferation	Non registrato

Abnormality of the cardiovascular system

Tratto	Frequenza di osservazione
High blood pressure	Molto spesso (80–99%)
Abnormal cardiovascular system morphology	A volte (5–29%)
Abnormality of the heart	A volte (5–29%)
Absent spleen	A volte (5–29%)
Accessory spleen	A volte (5–29%)
All organs on wrong side of body	A volte (5–29%)
Disease of the heart muscle	Raramente (1–4%)
An opening in the wall separating the top two chambers of the heart	Non registrato
Hole in heart wall separating two lower heart chambers	Non registrato

Abnormality of the musculoskeletal system

Tratto	Frequenza di osservazione
Low muscle tone	Sempre
Abnormality of bone mineral density	A volte (5–29%)
Cone-shaped end part of bone	A volte (5–29%)
Double-Jointed	A volte (5–29%)
Involuntary muscle stiffness, contraction, or spasm	A volte (5–29%)
Muscle degeneration	A volte (5–29%)
Scoliosis	A volte (5–29%)
Generalized decreased muscle tone	Non registrato

Laboratory abnormality

Tratto	Frequenza di osservazione
Decreased circulating high-density lipoprotein cholesterol	Spesso (30–79%)
High liver enzymes	Spesso (30–79%)
Impaired fasting glucose	Spesso (30–79%)
Increased plasma triglycerides	Spesso (30–79%)
Body fails to respond to insulin	A volte (5–29%)
Fatty infiltration of liver	A volte (5–29%)
Noninsulin-dependent diabetes	A volte (5–29%)

Abnormality of the respiratory system

Tratto	Frequenza di osservazione
Apnea	Molto spesso (80–99%)
Increased respiratory rate or depth of breathing	Molto spesso (80–99%)
Central apnea	Non registrato
Episodic tachypnea	Non registrato
Impaired breathing in newborn	Non registrato

Abnormality of the ear

Tratto	Frequenza di osservazione
Ears rotated toward back of head	Spesso (30–79%)
Hearing impairment	A volte (5–29%)
Large ears	A volte (5–29%)
Middle ear infection	A volte (5–29%)

Abnormality of the endocrine system

Tratto	Frequenza di osservazione
Decreased activity of gonads	Spesso (30–79%)
Abnormality of the endocrine system	A volte (5–29%)
Abnormality of the hypothalamus-pituitary axis	A volte (5–29%)
Underactive thyroid	A volte (5–29%)

Growth abnormality

Tratto	Frequenza di osservazione
Obesity	Sempre
Childhood-onset truncal obesity	Molto spesso (80–99%)
Short stature	Molto spesso (80–99%)
Prenatal growth deficiency	Non registrato

Abnormality of prenatal development or birth

Tratto	Frequenza di osservazione
Low levels of amniotic fluid	Spesso (30–79%)

Abnormality of the immune system

Tratto	Frequenza di osservazione
Asthma	A volte (5–29%)

Abnormality of the integument

Tratto	Frequenza di osservazione
Excessive hairiness over body	A volte (5–29%)

Con quale frequenza questo tratto si presenta tra le persone con una delle condizioni legate al gene, nella misura più alta riscontrata tra queste, secondo quanto registrato dall'Human Phenotype Ontology. Queste pagine descrivono tratti e la ricerca che li riguarda; non costituiscono una diagnosi, e per i sintomi il medico o il consulente genetico è la persona a cui rivolgersi.

Fonte dei dati

Human Phenotype Ontology, versione 2026-09-01: i tratti collegati a CEP290 e la frequenza con cui ciascuno viene osservato. Per saperne di più visiti hpo.jax.org.

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