Tunnused

Geeniga CEP290 seotud tunnused

centrosomal protein 290

Inimese fenotüübi ontoloogia seostab geeniga CEP290 200 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

CEP290

Abnormality of the eye

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

Abnormality of the nervous system

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

Abnormality of the genitourinary system

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

Abnormality of head or neck

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

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Extra little finger	Väga sageli (80–99%)
Extra toe attached near the little toe	Väga sageli (80–99%)
Postaxial polydactyly	Sageli (30–79%)
Short fingers or toes	Sageli (30–79%)
Talipes	Sageli (30–79%)
Bowing of the long bones	Mõnikord (5–29%)
Club feet	Mõnikord (5–29%)
Duplication of bones of the toes	Mõnikord (5–29%)
Extra finger	Mõnikord (5–29%)
Extra thumb	Mõnikord (5–29%)
Finger syndactyly	Mõnikord (5–29%)
Webbed fingers or toes	Mõnikord (5–29%)
Curvature of outermost bone of little finger	Harva (1–4%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Excessive buildup of connective tissue and scarring of liver at birth	Väga sageli (80–99%)
Abnormality of the gastrointestinal tract	Mõnikord (5–29%)
Cystic liver disease	Mõnikord (5–29%)
Enlarged colon lacking nerve cells	Mõnikord (5–29%)
Hepatic fibrosis	Mõnikord (5–29%)
Pancreatic cysts	Mõnikord (5–29%)
Pancreatic fibrosis	Mõnikord (5–29%)
Celiac disease	Harva (1–4%)
Inflammation of the large intestine	Harva (1–4%)
Bile duct proliferation	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
High blood pressure	Väga sageli (80–99%)
Abnormal cardiovascular system morphology	Mõnikord (5–29%)
Abnormality of the heart	Mõnikord (5–29%)
Absent spleen	Mõnikord (5–29%)
Accessory spleen	Mõnikord (5–29%)
All organs on wrong side of body	Mõnikord (5–29%)
Disease of the heart muscle	Harva (1–4%)
An opening in the wall separating the top two chambers of the heart	Pole registreeritud
Hole in heart wall separating two lower heart chambers	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Low muscle tone	Alati
Abnormality of bone mineral density	Mõnikord (5–29%)
Cone-shaped end part of bone	Mõnikord (5–29%)
Double-Jointed	Mõnikord (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Mõnikord (5–29%)
Muscle degeneration	Mõnikord (5–29%)
Scoliosis	Mõnikord (5–29%)
Generalized decreased muscle tone	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Decreased circulating high-density lipoprotein cholesterol	Sageli (30–79%)
High liver enzymes	Sageli (30–79%)
Impaired fasting glucose	Sageli (30–79%)
Increased plasma triglycerides	Sageli (30–79%)
Body fails to respond to insulin	Mõnikord (5–29%)
Fatty infiltration of liver	Mõnikord (5–29%)
Noninsulin-dependent diabetes	Mõnikord (5–29%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Apnea	Väga sageli (80–99%)
Increased respiratory rate or depth of breathing	Väga sageli (80–99%)
Central apnea	Pole registreeritud
Episodic tachypnea	Pole registreeritud
Impaired breathing in newborn	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Ears rotated toward back of head	Sageli (30–79%)
Hearing impairment	Mõnikord (5–29%)
Large ears	Mõnikord (5–29%)
Middle ear infection	Mõnikord (5–29%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Decreased activity of gonads	Sageli (30–79%)
Abnormality of the endocrine system	Mõnikord (5–29%)
Abnormality of the hypothalamus-pituitary axis	Mõnikord (5–29%)
Underactive thyroid	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Obesity	Alati
Childhood-onset truncal obesity	Väga sageli (80–99%)
Short stature	Väga sageli (80–99%)
Prenatal growth deficiency	Pole registreeritud

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Low levels of amniotic fluid	Sageli (30–79%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Asthma	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Excessive hairiness over body	Mõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga CEP290 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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