Tunnused

Geeniga SCAPER seotud tunnused

S-phase cyclin A associated protein in the ER

Inimese fenotüübi ontoloogia seostab geeniga SCAPER 123 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

SCAPER

Abnormality of the eye

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

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the genitourinary system	Sageli (30–79%)
Chronic kidney disease	Sageli (30–79%)
Underdeveloped ovary	Sageli (30–79%)
Underdeveloped penis	Sageli (30–79%)
Absent/small vagina	Mõnikord (5–29%)
Decreased testicular size	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%)
Menstrual irregularity	Mõnikord (5–29%)
Multiple kidney cysts	Mõnikord (5–29%)
Nephrotic syndrome	Mõnikord (5–29%)
Polycystic ovaries	Mõnikord (5–29%)
Undescended testes	Mõnikord (5–29%)
Vesicoureteral reflux	Mõnikord (5–29%)

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Intellectual disability	Alati
Neurodevelopmental delay	Väga sageli (80–99%)
Attention deficit	Sageli (30–79%)
Autism	Sageli (30–79%)
Behavioral abnormality	Sageli (30–79%)
Cognitive impairment	Sageli (30–79%)
Depression	Sageli (30–79%)
Short attention span	Sageli (30–79%)
Specific learning disability	Sageli (30–79%)
Abnormal speech pattern	Mõnikord (5–29%)
Anxiety	Mõnikord (5–29%)
Ataxia	Mõnikord (5–29%)
Breathy speech	Mõnikord (5–29%)
Can't control feelings	Mõnikord (5–29%)
Delayed speech and language development	Mõnikord (5–29%)
Epilepsy	Mõnikord (5–29%)

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Abnormality of the oral cavity	Sageli (30–79%)
Abnormality of the sense of smell	Sageli (30–79%)
Dental crowding	Sageli (30–79%)
Failure of development of between one and six teeth	Sageli (30–79%)
High palate	Sageli (30–79%)
Decreased size of tooth	Mõnikord (5–29%)
Depressed nasal bridge	Mõnikord (5–29%)
Downward slanting of the opening between the eyelids	Mõnikord (5–29%)
Long philtrum	Mõnikord (5–29%)
Medial flaring of the eyebrow	Mõnikord (5–29%)
Nasal inflammation	Mõnikord (5–29%)
Prominent nasal bridge	Mõnikord (5–29%)
Receding chin	Mõnikord (5–29%)
Short neck	Mõnikord (5–29%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Decreased circulating high-density lipoprotein cholesterol	Sageli (30–79%)
High liver enzymes	Sageli (30–79%)
Hyperinsulinemia	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 limbs

Tunnus	Kui sageli seda täheldatakse
Postaxial polydactyly	Sageli (30–79%)
Short fingers or toes	Sageli (30–79%)
Club feet	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 ear

Tunnus	Kui sageli seda täheldatakse
Conductive deafness	Väga sageli (80–99%)
Sensorineural hearing impairment	Väga sageli (80–99%)
Ears rotated toward back of head	Mõnikord (5–29%)
Hearing impairment	Mõnikord (5–29%)
Large ears	Mõnikord (5–29%)
Middle ear infection	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Narrowing of blood vessels in back of eye	Alati
Abnormality of retina blood vessels	Väga sageli (80–99%)
High blood pressure	Sageli (30–79%)
Abnormality of the heart	Mõnikord (5–29%)
Disease of the heart muscle	Harva (1–4%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the gastrointestinal tract	Mõnikord (5–29%)
Hepatic fibrosis	Mõnikord (5–29%)
Celiac disease	Harva (1–4%)
Enlarged colon lacking nerve cells	Harva (1–4%)
Inflammation of the large intestine	Harva (1–4%)

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%)
Underactive thyroid	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Double-Jointed	Mõnikord (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Mõnikord (5–29%)
Muscle degeneration	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Childhood-onset truncal obesity	Väga sageli (80–99%)
Obesity	Väga sageli (80–99%)
Short stature	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 SCAPER seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

Üks test. Vastused kogu eluks.

Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast

Telli oma Genome Test