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Kenmerken

Kenmerken gekoppeld aan CDON

cell adhesion associated, oncogene regulated

De Human Phenotype Ontology koppelt 128 kenmerken aan CDON, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.

Abnormality of the nervous system

KenmerkHoe vaak het voorkomt
Abnormal central motor functionVaak (30–79%)
Abnormal corpus callosum morphologyVaak (30–79%)
Abnormal morphology of the olfactory bulbVaak (30–79%)
Abnormal shape of brainstemVaak (30–79%)
Abnormal shape of midbrainVaak (30–79%)
Abnormality of the autonomic nervous systemVaak (30–79%)
Absent speech developmentVaak (30–79%)
AnxietyVaak (30–79%)
Aplasia of the falx cerebriVaak (30–79%)
Attention deficitVaak (30–79%)
Behavioral abnormalityVaak (30–79%)
Communication delayVaak (30–79%)
DepressionVaak (30–79%)
EpilepsyVaak (30–79%)
ImpulsivityVaak (30–79%)
Inability to walkVaak (30–79%)
Intellectual disabilityVaak (30–79%)
IrritabilityVaak (30–79%)
Lack of feeling, emotion, interestVaak (30–79%)
LethargyVaak (30–79%)
Limb dystoniaVaak (30–79%)
Neural tube defectVaak (30–79%)
Oromotor apraxiaVaak (30–79%)
Poor speechVaak (30–79%)
Short attention spanVaak (30–79%)
Sleep-wake cycle disturbanceVaak (30–79%)
Specific learning disabilityVaak (30–79%)
Abnormal septum pellucidum morphologySoms (5–29%)
Agenesis of corpus callosumSoms (5–29%)
Enlarged brainSoms (5–29%)
Global developmental delaySoms (5–29%)
HoloprosencephalySoms (5–29%)
Hypoplasia of the ponsSoms (5–29%)
Perisylvian polymicrogyriaSoms (5–29%)
RhombencephalosynapsisSoms (5–29%)
Too much cerebrospinal fluid in the brainSoms (5–29%)

Abnormality of head or neck

KenmerkHoe vaak het voorkomt
Blockage of the rear opening of the nasal cavityHeel vaak (80–99%)
Midnasal stenosisHeel vaak (80–99%)
Only one upper front toothHeel vaak (80–99%)
Abnormally small headVaak (30–79%)
Bifid uvulaVaak (30–79%)
Central cleft upper lipVaak (30–79%)
Cleft palateVaak (30–79%)
Flat noseVaak (30–79%)
High palateVaak (30–79%)
Narrow nasal bridgeVaak (30–79%)
Short philtrumVaak (30–79%)
Tented mouthVaak (30–79%)
Big calvariaSoms (5–29%)
Cleft of the mouthSoms (5–29%)
Frontoethmoidal encephaloceleSoms (5–29%)
Mono nostrilSoms (5–29%)
Nasal tip, upturnedSoms (5–29%)
ProboscisSoms (5–29%)
Short noseSoms (5–29%)
Cleft lipNiet vastgelegd
MonobrowNiet vastgelegd
Thick eyebrowNiet vastgelegd

Abnormality of the endocrine system

KenmerkHoe vaak het voorkomt
Ectopic posterior pituitaryAltijd
Abnormality of the hypothalamus-pituitary axisHeel vaak (80–99%)
Abnormal hypothalamus physiologyVaak (30–79%)
Abnormality of the endocrine systemVaak (30–79%)
Anterior hypopituitarismVaak (30–79%)
Central diabetes insipidusVaak (30–79%)
Delayed pubertyVaak (30–79%)
Diabetes insipidusVaak (30–79%)
Early onset of pubertyVaak (30–79%)
Underactive thyroidVaak (30–79%)
Central hypothyroidismSoms (5–29%)
Decreased response to growth hormone stimulation testSoms (5–29%)
PanhypopituitarismSoms (5–29%)
Small adrenal glandsSoms (5–29%)

Abnormality of the digestive system

KenmerkHoe vaak het voorkomt
Feeding difficultiesHeel vaak (80–99%)
Poor suckHeel vaak (80–99%)
Acid refluxVaak (30–79%)
ConstipationVaak (30–79%)
Poor swallowingVaak (30–79%)
VomitingVaak (30–79%)
Abnormal shape of the digestive systemSoms (5–29%)
Absence or narrowing of first part of small bowelSoms (5–29%)
Anteriorly placed anusSoms (5–29%)
Gastrostomy tube feeding in infancySoms (5–29%)

Abnormality of the musculoskeletal system

KenmerkHoe vaak het voorkomt
Abnormal vertebral morphologyVaak (30–79%)
Abnormality of the ribsVaak (30–79%)
Decreased muscle tone in infantVaak (30–79%)
Generalized decreased muscle toneVaak (30–79%)
Involuntary muscle stiffness, contraction, or spasmVaak (30–79%)
Abnormality of the skeletal systemSoms (5–29%)
EMG: myopathic abnormalitiesSoms (5–29%)
Flexed joint that cannot be straightenedSoms (5–29%)
Low muscle tone in trunkSoms (5–29%)
ScoliosisSoms (5–29%)

Abnormality of the eye

KenmerkHoe vaak het voorkomt
Abnormality of the eyeHeel vaak (80–99%)
Abnormally close eyesHeel vaak (80–99%)
Cerebral visual impairmentVaak (30–79%)
Cat eyeSoms (5–29%)
Cross-eyedSoms (5–29%)
Cyclops eyeSoms (5–29%)
Septo-optic dysplasiaSoms (5–29%)
Bulging eyeNiet vastgelegd

Abnormality of the cardiovascular system

KenmerkHoe vaak het voorkomt
Abnormal cardiovascular system morphologySoms (5–29%)
Abnormal heart rate variabilitySoms (5–29%)
Abnormality of the heartSoms (5–29%)
Narrowing of aortaSoms (5–29%)
Strawberry markSoms (5–29%)
Tetralogy of FallotSoms (5–29%)
Multiple small spleensNiet vastgelegd

Abnormality of the genitourinary system

KenmerkHoe vaak het voorkomt
Underdeveloped penisVaak (30–79%)
Abnormality of the genitourinary systemSoms (5–29%)
Absent kidneySoms (5–29%)
Ambiguous external genitaliaSoms (5–29%)
Primary amenorrheaSoms (5–29%)
Undescended testesSoms (5–29%)

Growth abnormality

KenmerkHoe vaak het voorkomt
Faltering weightHeel vaak (80–99%)
Growth delayHeel vaak (80–99%)
Short statureHeel vaak (80–99%)
Prenatal growth deficiencyVaak (30–79%)

Abnormality of the respiratory system

KenmerkHoe vaak het voorkomt
Abnormal pattern of respirationVaak (30–79%)
Central apneaVaak (30–79%)
Chronic lung diseaseVaak (30–79%)

Abnormality of limbs

KenmerkHoe vaak het voorkomt
Abnormality of limbsSoms (5–29%)
Hip dislocationSoms (5–29%)

Abnormality of the immune system

KenmerkHoe vaak het voorkomt
Aspiration pneumoniaVaak (30–79%)
AsthmaSoms (5–29%)

Laboratory abnormality

KenmerkHoe vaak het voorkomt
Low blood sugarVaak (30–79%)
Temperature instabilityVaak (30–79%)

Abnormality of prenatal development or birth

KenmerkHoe vaak het voorkomt
Premature birthVaak (30–79%)

Abnormality of the ear

KenmerkHoe vaak het voorkomt
Sensorineural hearing impairmentVaak (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 CDON gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.

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