Kenmerken

Kenmerken gekoppeld aan CEP290

centrosomal protein 290

De Human Phenotype Ontology koppelt 200 kenmerken aan CEP290, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.

CEP290

Abnormality of the eye

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

Abnormality of the nervous system

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

Abnormality of the genitourinary system

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

Abnormality of head or neck

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

Abnormality of limbs

Kenmerk	Hoe vaak het voorkomt
Extra little finger	Heel vaak (80–99%)
Extra toe attached near the little toe	Heel vaak (80–99%)
Postaxial polydactyly	Vaak (30–79%)
Short fingers or toes	Vaak (30–79%)
Talipes	Vaak (30–79%)
Bowing of the long bones	Soms (5–29%)
Club feet	Soms (5–29%)
Duplication of bones of the toes	Soms (5–29%)
Extra finger	Soms (5–29%)
Extra thumb	Soms (5–29%)
Finger syndactyly	Soms (5–29%)
Webbed fingers or toes	Soms (5–29%)
Curvature of outermost bone of little finger	Zelden (1–4%)

Abnormality of the digestive system

Kenmerk	Hoe vaak het voorkomt
Excessive buildup of connective tissue and scarring of liver at birth	Heel vaak (80–99%)
Abnormality of the gastrointestinal tract	Soms (5–29%)
Cystic liver disease	Soms (5–29%)
Enlarged colon lacking nerve cells	Soms (5–29%)
Hepatic fibrosis	Soms (5–29%)
Pancreatic cysts	Soms (5–29%)
Pancreatic fibrosis	Soms (5–29%)
Celiac disease	Zelden (1–4%)
Inflammation of the large intestine	Zelden (1–4%)
Bile duct proliferation	Niet vastgelegd

Abnormality of the cardiovascular system

Kenmerk	Hoe vaak het voorkomt
High blood pressure	Heel vaak (80–99%)
Abnormal cardiovascular system morphology	Soms (5–29%)
Abnormality of the heart	Soms (5–29%)
Absent spleen	Soms (5–29%)
Accessory spleen	Soms (5–29%)
All organs on wrong side of body	Soms (5–29%)
Disease of the heart muscle	Zelden (1–4%)
An opening in the wall separating the top two chambers of the heart	Niet vastgelegd
Hole in heart wall separating two lower heart chambers	Niet vastgelegd

Abnormality of the musculoskeletal system

Kenmerk	Hoe vaak het voorkomt
Low muscle tone	Altijd
Abnormality of bone mineral density	Soms (5–29%)
Cone-shaped end part of bone	Soms (5–29%)
Double-Jointed	Soms (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Soms (5–29%)
Muscle degeneration	Soms (5–29%)
Scoliosis	Soms (5–29%)
Generalized decreased muscle tone	Niet vastgelegd

Laboratory abnormality

Kenmerk	Hoe vaak het voorkomt
Decreased circulating high-density lipoprotein cholesterol	Vaak (30–79%)
High liver enzymes	Vaak (30–79%)
Impaired fasting glucose	Vaak (30–79%)
Increased plasma triglycerides	Vaak (30–79%)
Body fails to respond to insulin	Soms (5–29%)
Fatty infiltration of liver	Soms (5–29%)
Noninsulin-dependent diabetes	Soms (5–29%)

Abnormality of the respiratory system

Kenmerk	Hoe vaak het voorkomt
Apnea	Heel vaak (80–99%)
Increased respiratory rate or depth of breathing	Heel vaak (80–99%)
Central apnea	Niet vastgelegd
Episodic tachypnea	Niet vastgelegd
Impaired breathing in newborn	Niet vastgelegd

Abnormality of the ear

Kenmerk	Hoe vaak het voorkomt
Ears rotated toward back of head	Vaak (30–79%)
Hearing impairment	Soms (5–29%)
Large ears	Soms (5–29%)
Middle ear infection	Soms (5–29%)

Abnormality of the endocrine system

Kenmerk	Hoe vaak het voorkomt
Decreased activity of gonads	Vaak (30–79%)
Abnormality of the endocrine system	Soms (5–29%)
Abnormality of the hypothalamus-pituitary axis	Soms (5–29%)
Underactive thyroid	Soms (5–29%)

Growth abnormality

Kenmerk	Hoe vaak het voorkomt
Obesity	Altijd
Childhood-onset truncal obesity	Heel vaak (80–99%)
Short stature	Heel vaak (80–99%)
Prenatal growth deficiency	Niet vastgelegd

Abnormality of prenatal development or birth

Kenmerk	Hoe vaak het voorkomt
Low levels of amniotic fluid	Vaak (30–79%)

Abnormality of the immune system

Kenmerk	Hoe vaak het voorkomt
Asthma	Soms (5–29%)

Abnormality of the integument

Kenmerk	Hoe vaak het voorkomt
Excessive hairiness over body	Soms (5–29%)

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

De Human Phenotype Ontology, versie 2026-09-01: de aan CEP290 gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.

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