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Kenmerken

Kenmerken gekoppeld aan CDH23

cadherin related 23

De Human Phenotype Ontology koppelt 149 kenmerken aan CDH23, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.

Abnormality of the endocrine system

KenmerkHoe vaak het voorkomt
Abnormal pituitary gland morphologyHeel vaak (80–99%)
Decreased activity of gonadsHeel vaak (80–99%)
Decreased function of male gonadHeel vaak (80–99%)
Elevated circulating thyroid-stimulating hormone concentrationHeel vaak (80–99%)
Enlarged pituitary glandHeel vaak (80–99%)
Enlarged thyroid gland in neckHeel vaak (80–99%)
Female hypogonadismHeel vaak (80–99%)
Hypogonadotropic hypogonadismHeel vaak (80–99%)
Increased circulating cortisol levelHeel vaak (80–99%)
Overactive thyroidHeel vaak (80–99%)
Paradoxical increased cortisol secretion on dexamethasone suppression testHeel vaak (80–99%)
Pituitary corticotropic cell adenomaHeel vaak (80–99%)
Adrenocorticotropic hormone deficiencyVaak (30–79%)
Adrenocorticotropin deficient adrenal insufficiencyVaak (30–79%)
Central adrenal insufficiencyVaak (30–79%)
Decreased circulating ACTH concentrationVaak (30–79%)
Enlarged adrenal glandsVaak (30–79%)
Increased circulating ACTH levelVaak (30–79%)
Low thyroid gland function due to abnormal pituitary glandVaak (30–79%)
Secondary growth hormone deficiencyVaak (30–79%)
Thyroid crisisVaak (30–79%)
Anterior hypopituitarismSoms (5–29%)
Delayed pubertySoms (5–29%)
Euthyroid hyperthyroxinemiaSoms (5–29%)
Growth hormone excessSoms (5–29%)
Increased circulating gonadotropin levelSoms (5–29%)
Increased circulating prolactin concentrationSoms (5–29%)
Noncancerous tumor in pituitary glandNiet vastgelegd

Abnormality of the eye

KenmerkHoe vaak het voorkomt
Abnormal electroretinogramHeel vaak (80–99%)
Blind spotHeel vaak (80–99%)
Difficulties with night visionHeel vaak (80–99%)
Rod-cone dystrophyHeel vaak (80–99%)
Visual lossHeel vaak (80–99%)
Clouding of the lens of the eyeVaak (30–79%)
Decreased clarity of visionVaak (30–79%)
Loss of peripheral visionVaak (30–79%)
Progressive loss of visionVaak (30–79%)
Abnormal visual field testSoms (5–29%)
Bitemporal hemianopiaSoms (5–29%)
BlindnessSoms (5–29%)
Double visionSoms (5–29%)
Drooping upper eyelidSoms (5–29%)
HemianopiaSoms (5–29%)
Heteronymous hemianopiaSoms (5–29%)
Internal ophthalmoplegiaSoms (5–29%)
Oculomotor nerve palsySoms (5–29%)
Sudden decrease in visionSoms (5–29%)
Optic nerve compressionZelden (1–4%)
Partial loss of field of visionZelden (1–4%)

Abnormality of the nervous system

KenmerkHoe vaak het voorkomt
Abnormality of balanceVaak (30–79%)
Behavioral abnormalityVaak (30–79%)
Can't control feelingsVaak (30–79%)
Delayed speech and language developmentVaak (30–79%)
HeadacheVaak (30–79%)
Motor delayVaak (30–79%)
TremorVaak (30–79%)
Abducens palsySoms (5–29%)
AnxietySoms (5–29%)
Cranial nerve paralysisSoms (5–29%)
DepressionSoms (5–29%)
EpilepsySoms (5–29%)
Fourth cranial nerve palsySoms (5–29%)
Memory impairmentSoms (5–29%)
Periodic hypokalemic paresisSoms (5–29%)
Psychotic episodesSoms (5–29%)
Suicidal ideationSoms (5–29%)
DementiaZelden (1–4%)
Panic attackZelden (1–4%)
ParanoiaZelden (1–4%)
PsychosisZelden (1–4%)

Abnormality of the genitourinary system

KenmerkHoe vaak het voorkomt
Abnormal absence of menstruationHeel vaak (80–99%)
Abnormal erectionHeel vaak (80–99%)
Abnormality of the menstrual cycleHeel vaak (80–99%)
Decreased female sex driveHeel vaak (80–99%)
Decreased fertility in femalesHeel vaak (80–99%)
Decreased fertility in malesHeel vaak (80–99%)
Difficulty getting a full erectionHeel vaak (80–99%)
Menstrual irregularityHeel vaak (80–99%)
DyspareuniaVaak (30–79%)
Abnormal libidoSoms (5–29%)
InfertilitySoms (5–29%)
Light or infrequent menstrual periodsSoms (5–29%)
Previous menstrual periods stopSoms (5–29%)

Abnormality of the cardiovascular system

KenmerkHoe vaak het voorkomt
Abnormality of the cardiovascular systemVaak (30–79%)
Capillary fragilityVaak (30–79%)
High blood pressureVaak (30–79%)
Low blood pressureVaak (30–79%)
PalpitationsVaak (30–79%)
Cardiac failureSoms (5–29%)
Fluid around heartSoms (5–29%)
Heart attackSoms (5–29%)
Livedo reticularisSoms (5–29%)
StrokeSoms (5–29%)
Supraventricular arrhythmiaSoms (5–29%)
Ventricular arrhythmiaSoms (5–29%)

Abnormality of the integument

KenmerkHoe vaak het voorkomt
Abnormal hair quantityVaak (30–79%)
Buffalo humpVaak (30–79%)
Excessive hairinessVaak (30–79%)
Excessive sweatingVaak (30–79%)
PalenessVaak (30–79%)
Patchy darkened skinVaak (30–79%)
PlethoraVaak (30–79%)
Poor wound healingVaak (30–79%)
Stretch marksVaak (30–79%)
Thin skinVaak (30–79%)
FlushingSoms (5–29%)
Open skin soreSoms (5–29%)

Abnormality of the musculoskeletal system

KenmerkHoe vaak het voorkomt
Fatiguable weakness of proximal limb musclesVaak (30–79%)
Muscle weaknessVaak (30–79%)
OsteopeniaVaak (30–79%)
OsteoporosisVaak (30–79%)
Tired easilyVaak (30–79%)
Wasting of muscles near the bodyVaak (30–79%)
Compression fracture of a vertebral bodySoms (5–29%)
Death of bone due to decreased blood supplyZelden (1–4%)

Abnormality of blood and blood-forming tissues

KenmerkHoe vaak het voorkomt
Bruising susceptibilityVaak (30–79%)
Decreased blood lymphocyte numberVaak (30–79%)
Decreased total eosinophil countVaak (30–79%)
Elevated white blood countVaak (30–79%)
Blood spotsSoms (5–29%)
EcchymosisSoms (5–29%)

Abnormality of the ear

KenmerkHoe vaak het voorkomt
Prelingual sensorineural hearing impairmentAltijd
Abnormal cochlea morphologyHeel vaak (80–99%)
Sensorineural hearing impairmentHeel vaak (80–99%)
Abnormal vestibular functionVaak (30–79%)
DizzinessSoms (5–29%)
Hearing impairmentNiet vastgelegd

Abnormality of head or neck

KenmerkHoe vaak het voorkomt
Dark color of gumsVaak (30–79%)
Moon faceVaak (30–79%)
Big sella turcicaSoms (5–29%)
Sparse scalp hairSoms (5–29%)

Growth abnormality

KenmerkHoe vaak het voorkomt
Abdominal obesityVaak (30–79%)
Increased body weightVaak (30–79%)
Truncal obesityVaak (30–79%)
Weight lossVaak (30–79%)

Laboratory abnormality

KenmerkHoe vaak het voorkomt
High urine cortisol levelHeel vaak (80–99%)
Diabetes mellitusVaak (30–79%)
Impaired glucose toleranceVaak (30–79%)
Low blood potassium levelsSoms (5–29%)

Abnormality of the immune system

KenmerkHoe vaak het voorkomt
AcneVaak (30–79%)
Decreased immune functionVaak (30–79%)
Recurrent cutaneous fungal infectionsSoms (5–29%)

Abnormality of the breast

KenmerkHoe vaak het voorkomt
Spontaneous milk flow from breastHeel vaak (80–99%)
Enlarged male breastVaak (30–79%)

Abnormality of the digestive system

KenmerkHoe vaak het voorkomt
Nausea and vomitingVaak (30–79%)
VomitingVaak (30–79%)

Abnormality of limbs

KenmerkHoe vaak het voorkomt
Fluid accumulation in lower limbsZelden (1–4%)

Abnormality of the respiratory system

KenmerkHoe vaak het voorkomt
Abnormality of the respiratory systemSoms (5–29%)

Constitutional symptom

KenmerkHoe vaak het voorkomt
FatigueVaak (30–79%)

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 CDH23 gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.

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