Požymiai

Su SCAPER susiję požymiai

S-phase cyclin A associated protein in the ER

Žmogaus fenotipo ontologija sieja 123 požymių su SCAPER, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Breakdown of light-sensitive cells in back of eye	Visada
Decreased clarity of vision	Visada
Difficulties with night vision	Visada
Optic disc pallor	Visada
Spicular pigmentation of the retina	Visada
Abnormal electroretinogram	Labai dažnai (80–99%)
Abnormal retinal pigmentation	Labai dažnai (80–99%)
Blindness	Labai dažnai (80–99%)
Cone/cone-rod dystrophy	Labai dažnai (80–99%)
Extreme sensitivity of the eyes to light	Labai dažnai (80–99%)
Involuntary, rapid, rhythmic eye movements	Labai dažnai (80–99%)
Optic atrophy	Labai dažnai (80–99%)
Progressive night blindness	Labai dažnai (80–99%)
Retina degeneration	Labai dažnai (80–99%)
Visual impairment	Labai dažnai (80–99%)
Abnormal central response of multifocal electroretinogram	Dažnai (30–79%)
Abnormal color vision	Dažnai (30–79%)
Abnormal flash visual evoked potentials	Dažnai (30–79%)
Abnormal full-field electroretinogram	Dažnai (30–79%)
Bulging cornea	Dažnai (30–79%)
Cystoid macular edema	Dažnai (30–79%)
Eye muscle paralysis	Dažnai (30–79%)
Glaucoma	Dažnai (30–79%)
Loss of peripheral vision	Dažnai (30–79%)
Optic disc drusen	Dažnai (30–79%)
Photoreceptor outer segment loss on macular OCT	Dažnai (30–79%)
Posterior subcapsular cataract	Dažnai (30–79%)
Retinal atrophy	Dažnai (30–79%)
Astigmatism	Kartais (5–29%)
Clouding of the lens of the eye	Kartais (5–29%)
Cross-eyed	Kartais (5–29%)
Photopsia	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)
Macular degeneration	Neužfiksuota
Peripapillary atrophy	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormality of the genitourinary system	Dažnai (30–79%)
Chronic kidney disease	Dažnai (30–79%)
Underdeveloped ovary	Dažnai (30–79%)
Underdeveloped penis	Dažnai (30–79%)
Absent/small vagina	Kartais (5–29%)
Decreased testicular size	Kartais (5–29%)
Horseshoe kidney	Kartais (5–29%)
Hydrometrocolpos	Kartais (5–29%)
Hydronephrosis	Kartais (5–29%)
Infertility	Kartais (5–29%)
Lack of bladder control due to nervous system injury	Kartais (5–29%)
Menstrual irregularity	Kartais (5–29%)
Multiple kidney cysts	Kartais (5–29%)
Nephrotic syndrome	Kartais (5–29%)
Polycystic ovaries	Kartais (5–29%)
Undescended testes	Kartais (5–29%)
Vesicoureteral reflux	Kartais (5–29%)

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Intellectual disability	Visada
Neurodevelopmental delay	Labai dažnai (80–99%)
Attention deficit	Dažnai (30–79%)
Autism	Dažnai (30–79%)
Behavioral abnormality	Dažnai (30–79%)
Cognitive impairment	Dažnai (30–79%)
Depression	Dažnai (30–79%)
Short attention span	Dažnai (30–79%)
Specific learning disability	Dažnai (30–79%)
Abnormal speech pattern	Kartais (5–29%)
Anxiety	Kartais (5–29%)
Ataxia	Kartais (5–29%)
Breathy speech	Kartais (5–29%)
Can't control feelings	Kartais (5–29%)
Delayed speech and language development	Kartais (5–29%)
Epilepsy	Kartais (5–29%)

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Abnormality of the oral cavity	Dažnai (30–79%)
Abnormality of the sense of smell	Dažnai (30–79%)
Dental crowding	Dažnai (30–79%)
Failure of development of between one and six teeth	Dažnai (30–79%)
High palate	Dažnai (30–79%)
Decreased size of tooth	Kartais (5–29%)
Depressed nasal bridge	Kartais (5–29%)
Downward slanting of the opening between the eyelids	Kartais (5–29%)
Long philtrum	Kartais (5–29%)
Medial flaring of the eyebrow	Kartais (5–29%)
Nasal inflammation	Kartais (5–29%)
Prominent nasal bridge	Kartais (5–29%)
Receding chin	Kartais (5–29%)
Short neck	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Decreased circulating high-density lipoprotein cholesterol	Dažnai (30–79%)
High liver enzymes	Dažnai (30–79%)
Hyperinsulinemia	Dažnai (30–79%)
Impaired fasting glucose	Dažnai (30–79%)
Increased plasma triglycerides	Dažnai (30–79%)
Body fails to respond to insulin	Kartais (5–29%)
Fatty infiltration of liver	Kartais (5–29%)
Noninsulin-dependent diabetes	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Postaxial polydactyly	Dažnai (30–79%)
Short fingers or toes	Dažnai (30–79%)
Club feet	Kartais (5–29%)
Finger syndactyly	Kartais (5–29%)
Webbed fingers or toes	Kartais (5–29%)
Curvature of outermost bone of little finger	Retai (1–4 %)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Conductive deafness	Labai dažnai (80–99%)
Sensorineural hearing impairment	Labai dažnai (80–99%)
Ears rotated toward back of head	Kartais (5–29%)
Hearing impairment	Kartais (5–29%)
Large ears	Kartais (5–29%)
Middle ear infection	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Narrowing of blood vessels in back of eye	Visada
Abnormality of retina blood vessels	Labai dažnai (80–99%)
High blood pressure	Dažnai (30–79%)
Abnormality of the heart	Kartais (5–29%)
Disease of the heart muscle	Retai (1–4 %)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Abnormality of the gastrointestinal tract	Kartais (5–29%)
Hepatic fibrosis	Kartais (5–29%)
Celiac disease	Retai (1–4 %)
Enlarged colon lacking nerve cells	Retai (1–4 %)
Inflammation of the large intestine	Retai (1–4 %)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Decreased activity of gonads	Dažnai (30–79%)
Abnormality of the endocrine system	Kartais (5–29%)
Underactive thyroid	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Double-Jointed	Kartais (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Kartais (5–29%)
Muscle degeneration	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Childhood-onset truncal obesity	Labai dažnai (80–99%)
Obesity	Labai dažnai (80–99%)
Short stature	Dažnai (30–79%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Asthma	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Excessive hairiness over body	Kartais (5–29%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su SCAPER susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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