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Traits

Traits linked to CHEK2

checkpoint kinase 2

The Human Phenotype Ontology links 99 traits to CHEK2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

TraitHoe vaak het voorkomt
Glioblastoma multiformeHeel vaak (80–99%)
AnxietyVaak (30–79%)
Attention deficitVaak (30–79%)
Behavioral abnormalityVaak (30–79%)
DepressionVaak (30–79%)
EpilepsyVaak (30–79%)
IrritabilityVaak (30–79%)
MigraineVaak (30–79%)
Rise in pressure inside skullVaak (30–79%)
Abnormal gaitSoms (5–29%)
Abnormal pyramidal signSoms (5–29%)
Abnormal speech patternSoms (5–29%)
AstrocytomaSoms (5–29%)
Benign neoplasm of the central nervous systemSoms (5–29%)
Cancer of early nerve cellsSoms (5–29%)
Choroid plexus carcinomaSoms (5–29%)
Difficulty articulating speechSoms (5–29%)
Disorder of involuntary muscle movementsSoms (5–29%)
Disturbed sensory perceptionSoms (5–29%)
DysgraphiaSoms (5–29%)
EpendymomaSoms (5–29%)
HallucinationsSoms (5–29%)
Loss of developmental milestonesSoms (5–29%)
Memory impairmentSoms (5–29%)
Paralysis or weakness of one side of bodySoms (5–29%)
Pins and needles feelingSoms (5–29%)
Tumors of the central nervous systemSoms (5–29%)
MedulloblastomaZelden (1–4%)
GliomaNiet vastgelegd
Noncancerous growth of membranes covering brainNiet vastgelegd

Abnormality of the digestive system

TraitHoe vaak het voorkomt
Abdominal painHeel vaak (80–99%)
ConstipationHeel vaak (80–99%)
MalabsorptionHeel vaak (80–99%)
Primary peritoneal carcinomaHeel vaak (80–99%)
Nausea and vomitingVaak (30–79%)
Rectal tumorVaak (30–79%)
Cancer of the pancreasSoms (5–29%)
Colon tumorSoms (5–29%)
Colorectal polyposisSoms (5–29%)
Gastrointestinal tract tumorSoms (5–29%)
Hepatocellular carcinomaSoms (5–29%)
Pancreatic adenocarcinomaSoms (5–29%)
Stomach cancerSoms (5–29%)
Colon cancerZelden (1–4%)

Abnormality of blood and blood-forming tissues

TraitHoe vaak het voorkomt
Gastrointestinal bleedingVaak (30–79%)
Blood cancerSoms (5–29%)
Cancer of lymphatic systemSoms (5–29%)
Acute lymphoblastic leukemiaZelden (1–4%)
Acute myeloid leukemiaZelden (1–4%)
Hodgkin lymphomaZelden (1–4%)
MyelodysplasiaZelden (1–4%)
Non-Hodgkin lymphomaZelden (1–4%)

Abnormality of the musculoskeletal system

TraitHoe vaak het voorkomt
Breakdown of boneHeel vaak (80–99%)
Low muscle toneVaak (30–79%)
Spasticity and rigidity of musclesVaak (30–79%)
Bone cell cancerSoms (5–29%)
Flexed joint that cannot be straightenedSoms (5–29%)
RhabdomyosarcomaSoms (5–29%)
Skeletal tumorSoms (5–29%)
Spontaneous fractureZelden (1–4%)

Abnormality of the genitourinary system

TraitHoe vaak het voorkomt
Abnormal fallopian tube morphologyHeel vaak (80–99%)
Ovarian cancerHeel vaak (80–99%)
Prostate cancerSoms (5–29%)
Urinary tract neoplasmSoms (5–29%)
Kidney cancerZelden (1–4%)
Testicular cancerZelden (1–4%)
Uterine cancerZelden (1–4%)

Laboratory abnormality

TraitHoe vaak het voorkomt
Abnormal circulating lactate dehydrogenase concentrationVaak (30–79%)
Elevated alkaline phosphataseVaak (30–79%)
Increased circulating lactate dehydrogenase concentrationVaak (30–79%)
Joint swellingVaak (30–79%)
Abnormality of creatine metabolismSoms (5–29%)
FeverZelden (1–4%)

Abnormal tissue mass

TraitHoe vaak het voorkomt
Abnormal tissue massHeel vaak (80–99%)
Cancer of skin pigment cellsSoms (5–29%)
Central primitive neuroectodermal tumorSoms (5–29%)
Head and neck tumorZelden (1–4%)
Cancer of connective tissueNiet vastgelegd

Abnormality of the endocrine system

TraitHoe vaak het voorkomt
Adrenocortical carcinomaSoms (5–29%)
Neoplasm of the thyroid glandSoms (5–29%)
Noncancerous tumor in pituitary glandSoms (5–29%)
Thyroid carcinomaZelden (1–4%)

Abnormality of the eye

TraitHoe vaak het voorkomt
Amaurosis fugaxSoms (5–29%)
Partial loss of field of visionSoms (5–29%)
Visual impairmentSoms (5–29%)
Retina tumorNiet vastgelegd

Abnormality of limbs

TraitHoe vaak het voorkomt
Abnormality of the wide portion of the femoral boneHeel vaak (80–99%)
Abnormality of the wide portion of a long boneVaak (30–79%)
Abnormality of the wide portion of shankboneVaak (30–79%)

Abnormality of the breast

TraitHoe vaak het voorkomt
Breast cancerVaak (30–79%)
Breast tumorNiet vastgelegd

Abnormality of the respiratory system

TraitHoe vaak het voorkomt
Lung cancerZelden (1–4%)
Neoplasm of the larynxZelden (1–4%)

Constitutional symptom

TraitHoe vaak het voorkomt
FatigueHeel vaak (80–99%)
PainVaak (30–79%)

Abnormality of prenatal development or birth

TraitHoe vaak het voorkomt
ChoriocarcinomaZelden (1–4%)

Abnormality of the cardiovascular system

TraitHoe vaak het voorkomt
Cardiac diverticulumSoms (5–29%)

Abnormality of the integument

TraitHoe vaak het voorkomt
Basal cell carcinomaSoms (5–29%)

Growth abnormality

TraitHoe vaak het voorkomt
Weight lossHeel vaak (80–99%)

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

  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to CHEK2 and how often each is seen. Find out more at hpo.jax.org.

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