Özellikler

CEP290 ile ilişkili özellikler

centrosomal protein 290

Human Phenotype Ontology, CEP290 ile ilişkili 200 özelliği vücut sistemine göre listeliyor: genin nadir hastalıklarından birine sahip kişilerde görülen özellikler.

CEP290

Abnormality of the eye

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

Abnormality of the nervous system

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

Abnormality of the genitourinary system

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

Abnormality of head or neck

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

Abnormality of limbs

Özellik	Ne sıklıkla görüldüğü
Extra little finger	Çok sık (%80–99)
Extra toe attached near the little toe	Çok sık (%80–99)
Postaxial polydactyly	Sık (%30–79)
Short fingers or toes	Sık (%30–79)
Talipes	Sık (%30–79)
Bowing of the long bones	Bazen (%5–29)
Club feet	Bazen (%5–29)
Duplication of bones of the toes	Bazen (%5–29)
Extra finger	Bazen (%5–29)
Extra thumb	Bazen (%5–29)
Finger syndactyly	Bazen (%5–29)
Webbed fingers or toes	Bazen (%5–29)
Curvature of outermost bone of little finger	Seyrek (%1–4)

Abnormality of the digestive system

Özellik	Ne sıklıkla görüldüğü
Excessive buildup of connective tissue and scarring of liver at birth	Çok sık (%80–99)
Abnormality of the gastrointestinal tract	Bazen (%5–29)
Cystic liver disease	Bazen (%5–29)
Enlarged colon lacking nerve cells	Bazen (%5–29)
Hepatic fibrosis	Bazen (%5–29)
Pancreatic cysts	Bazen (%5–29)
Pancreatic fibrosis	Bazen (%5–29)
Celiac disease	Seyrek (%1–4)
Inflammation of the large intestine	Seyrek (%1–4)
Bile duct proliferation	Kaydedilmedi

Abnormality of the cardiovascular system

Özellik	Ne sıklıkla görüldüğü
High blood pressure	Çok sık (%80–99)
Abnormal cardiovascular system morphology	Bazen (%5–29)
Abnormality of the heart	Bazen (%5–29)
Absent spleen	Bazen (%5–29)
Accessory spleen	Bazen (%5–29)
All organs on wrong side of body	Bazen (%5–29)
Disease of the heart muscle	Seyrek (%1–4)
An opening in the wall separating the top two chambers of the heart	Kaydedilmedi
Hole in heart wall separating two lower heart chambers	Kaydedilmedi

Abnormality of the musculoskeletal system

Özellik	Ne sıklıkla görüldüğü
Low muscle tone	Her zaman
Abnormality of bone mineral density	Bazen (%5–29)
Cone-shaped end part of bone	Bazen (%5–29)
Double-Jointed	Bazen (%5–29)
Involuntary muscle stiffness, contraction, or spasm	Bazen (%5–29)
Muscle degeneration	Bazen (%5–29)
Scoliosis	Bazen (%5–29)
Generalized decreased muscle tone	Kaydedilmedi

Laboratory abnormality

Özellik	Ne sıklıkla görüldüğü
Decreased circulating high-density lipoprotein cholesterol	Sık (%30–79)
High liver enzymes	Sık (%30–79)
Impaired fasting glucose	Sık (%30–79)
Increased plasma triglycerides	Sık (%30–79)
Body fails to respond to insulin	Bazen (%5–29)
Fatty infiltration of liver	Bazen (%5–29)
Noninsulin-dependent diabetes	Bazen (%5–29)

Abnormality of the respiratory system

Özellik	Ne sıklıkla görüldüğü
Apnea	Çok sık (%80–99)
Increased respiratory rate or depth of breathing	Çok sık (%80–99)
Central apnea	Kaydedilmedi
Episodic tachypnea	Kaydedilmedi
Impaired breathing in newborn	Kaydedilmedi

Abnormality of the ear

Özellik	Ne sıklıkla görüldüğü
Ears rotated toward back of head	Sık (%30–79)
Hearing impairment	Bazen (%5–29)
Large ears	Bazen (%5–29)
Middle ear infection	Bazen (%5–29)

Abnormality of the endocrine system

Özellik	Ne sıklıkla görüldüğü
Decreased activity of gonads	Sık (%30–79)
Abnormality of the endocrine system	Bazen (%5–29)
Abnormality of the hypothalamus-pituitary axis	Bazen (%5–29)
Underactive thyroid	Bazen (%5–29)

Growth abnormality

Özellik	Ne sıklıkla görüldüğü
Obesity	Her zaman
Childhood-onset truncal obesity	Çok sık (%80–99)
Short stature	Çok sık (%80–99)
Prenatal growth deficiency	Kaydedilmedi

Abnormality of prenatal development or birth

Özellik	Ne sıklıkla görüldüğü
Low levels of amniotic fluid	Sık (%30–79)

Abnormality of the immune system

Özellik	Ne sıklıkla görüldüğü
Asthma	Bazen (%5–29)

Abnormality of the integument

Özellik	Ne sıklıkla görüldüğü
Excessive hairiness over body	Bazen (%5–29)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

Human Phenotype Ontology, 2026-09-01 sürümü: CEP290 ile ilişkili özellikler ve her birinin ne sıklıkla görüldüğü. Daha fazla bilgi için hpo.jax.org adresini ziyaret edin.

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