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Kenmerken

Kenmerken gekoppeld aan SCAPER

S-phase cyclin A associated protein in the ER

De Human Phenotype Ontology koppelt 123 kenmerken aan SCAPER, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.

Abnormality of the eye

KenmerkHoe vaak het voorkomt
Breakdown of light-sensitive cells in back of eyeAltijd
Decreased clarity of visionAltijd
Difficulties with night visionAltijd
Optic disc pallorAltijd
Spicular pigmentation of the retinaAltijd
Abnormal electroretinogramHeel vaak (80–99%)
Abnormal retinal pigmentationHeel vaak (80–99%)
BlindnessHeel vaak (80–99%)
Cone/cone-rod dystrophyHeel vaak (80–99%)
Extreme sensitivity of the eyes to lightHeel vaak (80–99%)
Involuntary, rapid, rhythmic eye movementsHeel vaak (80–99%)
Optic atrophyHeel vaak (80–99%)
Progressive night blindnessHeel vaak (80–99%)
Retina degenerationHeel vaak (80–99%)
Visual impairmentHeel vaak (80–99%)
Abnormal central response of multifocal electroretinogramVaak (30–79%)
Abnormal color visionVaak (30–79%)
Abnormal flash visual evoked potentialsVaak (30–79%)
Abnormal full-field electroretinogramVaak (30–79%)
Bulging corneaVaak (30–79%)
Cystoid macular edemaVaak (30–79%)
Eye muscle paralysisVaak (30–79%)
GlaucomaVaak (30–79%)
Loss of peripheral visionVaak (30–79%)
Optic disc drusenVaak (30–79%)
Photoreceptor outer segment loss on macular OCTVaak (30–79%)
Posterior subcapsular cataractVaak (30–79%)
Retinal atrophyVaak (30–79%)
AstigmatismSoms (5–29%)
Clouding of the lens of the eyeSoms (5–29%)
Cross-eyedSoms (5–29%)
PhotopsiaSoms (5–29%)
Wide-set eyesSoms (5–29%)
Macular degenerationNiet vastgelegd
Peripapillary atrophyNiet vastgelegd

Abnormality of the genitourinary system

KenmerkHoe vaak het voorkomt
Abnormality of the genitourinary systemVaak (30–79%)
Chronic kidney diseaseVaak (30–79%)
Underdeveloped ovaryVaak (30–79%)
Underdeveloped penisVaak (30–79%)
Absent/small vaginaSoms (5–29%)
Decreased testicular sizeSoms (5–29%)
Horseshoe kidneySoms (5–29%)
HydrometrocolposSoms (5–29%)
HydronephrosisSoms (5–29%)
InfertilitySoms (5–29%)
Lack of bladder control due to nervous system injurySoms (5–29%)
Menstrual irregularitySoms (5–29%)
Multiple kidney cystsSoms (5–29%)
Nephrotic syndromeSoms (5–29%)
Polycystic ovariesSoms (5–29%)
Undescended testesSoms (5–29%)
Vesicoureteral refluxSoms (5–29%)

Abnormality of the nervous system

KenmerkHoe vaak het voorkomt
Intellectual disabilityAltijd
Neurodevelopmental delayHeel vaak (80–99%)
Attention deficitVaak (30–79%)
AutismVaak (30–79%)
Behavioral abnormalityVaak (30–79%)
Cognitive impairmentVaak (30–79%)
DepressionVaak (30–79%)
Short attention spanVaak (30–79%)
Specific learning disabilityVaak (30–79%)
Abnormal speech patternSoms (5–29%)
AnxietySoms (5–29%)
AtaxiaSoms (5–29%)
Breathy speechSoms (5–29%)
Can't control feelingsSoms (5–29%)
Delayed speech and language developmentSoms (5–29%)
EpilepsySoms (5–29%)

Abnormality of head or neck

KenmerkHoe vaak het voorkomt
Abnormality of the oral cavityVaak (30–79%)
Abnormality of the sense of smellVaak (30–79%)
Dental crowdingVaak (30–79%)
Failure of development of between one and six teethVaak (30–79%)
High palateVaak (30–79%)
Decreased size of toothSoms (5–29%)
Depressed nasal bridgeSoms (5–29%)
Downward slanting of the opening between the eyelidsSoms (5–29%)
Long philtrumSoms (5–29%)
Medial flaring of the eyebrowSoms (5–29%)
Nasal inflammationSoms (5–29%)
Prominent nasal bridgeSoms (5–29%)
Receding chinSoms (5–29%)
Short neckSoms (5–29%)

Laboratory abnormality

KenmerkHoe vaak het voorkomt
Decreased circulating high-density lipoprotein cholesterolVaak (30–79%)
High liver enzymesVaak (30–79%)
HyperinsulinemiaVaak (30–79%)
Impaired fasting glucoseVaak (30–79%)
Increased plasma triglyceridesVaak (30–79%)
Body fails to respond to insulinSoms (5–29%)
Fatty infiltration of liverSoms (5–29%)
Noninsulin-dependent diabetesSoms (5–29%)

Abnormality of limbs

KenmerkHoe vaak het voorkomt
Postaxial polydactylyVaak (30–79%)
Short fingers or toesVaak (30–79%)
Club feetSoms (5–29%)
Finger syndactylySoms (5–29%)
Webbed fingers or toesSoms (5–29%)
Curvature of outermost bone of little fingerZelden (1–4%)

Abnormality of the ear

KenmerkHoe vaak het voorkomt
Conductive deafnessHeel vaak (80–99%)
Sensorineural hearing impairmentHeel vaak (80–99%)
Ears rotated toward back of headSoms (5–29%)
Hearing impairmentSoms (5–29%)
Large earsSoms (5–29%)
Middle ear infectionSoms (5–29%)

Abnormality of the cardiovascular system

KenmerkHoe vaak het voorkomt
Narrowing of blood vessels in back of eyeAltijd
Abnormality of retina blood vesselsHeel vaak (80–99%)
High blood pressureVaak (30–79%)
Abnormality of the heartSoms (5–29%)
Disease of the heart muscleZelden (1–4%)

Abnormality of the digestive system

KenmerkHoe vaak het voorkomt
Abnormality of the gastrointestinal tractSoms (5–29%)
Hepatic fibrosisSoms (5–29%)
Celiac diseaseZelden (1–4%)
Enlarged colon lacking nerve cellsZelden (1–4%)
Inflammation of the large intestineZelden (1–4%)

Abnormality of the endocrine system

KenmerkHoe vaak het voorkomt
Decreased activity of gonadsVaak (30–79%)
Abnormality of the endocrine systemSoms (5–29%)
Underactive thyroidSoms (5–29%)

Abnormality of the musculoskeletal system

KenmerkHoe vaak het voorkomt
Double-JointedSoms (5–29%)
Involuntary muscle stiffness, contraction, or spasmSoms (5–29%)
Muscle degenerationSoms (5–29%)

Growth abnormality

KenmerkHoe vaak het voorkomt
Childhood-onset truncal obesityHeel vaak (80–99%)
ObesityHeel vaak (80–99%)
Short statureVaak (30–79%)

Abnormality of the immune system

KenmerkHoe vaak het voorkomt
AsthmaSoms (5–29%)

Abnormality of the integument

KenmerkHoe vaak het voorkomt
Excessive hairiness over bodySoms (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 SCAPER gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.

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