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

Trait	Kaip dažnai pasireiškia
Glioblastoma multiforme	Labai dažnai (80–99%)
Anxiety	Dažnai (30–79%)
Attention deficit	Dažnai (30–79%)
Behavioral abnormality	Dažnai (30–79%)
Depression	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Irritability	Dažnai (30–79%)
Migraine	Dažnai (30–79%)
Rise in pressure inside skull	Dažnai (30–79%)
Abnormal gait	Kartais (5–29%)
Abnormal pyramidal sign	Kartais (5–29%)
Abnormal speech pattern	Kartais (5–29%)
Astrocytoma	Kartais (5–29%)
Benign neoplasm of the central nervous system	Kartais (5–29%)
Cancer of early nerve cells	Kartais (5–29%)
Choroid plexus carcinoma	Kartais (5–29%)
Difficulty articulating speech	Kartais (5–29%)
Disorder of involuntary muscle movements	Kartais (5–29%)
Disturbed sensory perception	Kartais (5–29%)
Dysgraphia	Kartais (5–29%)
Ependymoma	Kartais (5–29%)
Hallucinations	Kartais (5–29%)
Loss of developmental milestones	Kartais (5–29%)
Memory impairment	Kartais (5–29%)
Paralysis or weakness of one side of body	Kartais (5–29%)
Pins and needles feeling	Kartais (5–29%)
Tumors of the central nervous system	Kartais (5–29%)
Medulloblastoma	Retai (1–4 %)
Glioma	Neužfiksuota
Noncancerous growth of membranes covering brain	Neužfiksuota

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Abdominal pain	Labai dažnai (80–99%)
Constipation	Labai dažnai (80–99%)
Malabsorption	Labai dažnai (80–99%)
Primary peritoneal carcinoma	Labai dažnai (80–99%)
Nausea and vomiting	Dažnai (30–79%)
Rectal tumor	Dažnai (30–79%)
Cancer of the pancreas	Kartais (5–29%)
Colon tumor	Kartais (5–29%)
Colorectal polyposis	Kartais (5–29%)
Gastrointestinal tract tumor	Kartais (5–29%)
Hepatocellular carcinoma	Kartais (5–29%)
Pancreatic adenocarcinoma	Kartais (5–29%)
Stomach cancer	Kartais (5–29%)
Colon cancer	Retai (1–4 %)

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Gastrointestinal bleeding	Dažnai (30–79%)
Blood cancer	Kartais (5–29%)
Cancer of lymphatic system	Kartais (5–29%)
Acute lymphoblastic leukemia	Retai (1–4 %)
Acute myeloid leukemia	Retai (1–4 %)
Hodgkin lymphoma	Retai (1–4 %)
Myelodysplasia	Retai (1–4 %)
Non-Hodgkin lymphoma	Retai (1–4 %)

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Breakdown of bone	Labai dažnai (80–99%)
Low muscle tone	Dažnai (30–79%)
Spasticity and rigidity of muscles	Dažnai (30–79%)
Bone cell cancer	Kartais (5–29%)
Flexed joint that cannot be straightened	Kartais (5–29%)
Rhabdomyosarcoma	Kartais (5–29%)
Skeletal tumor	Kartais (5–29%)
Spontaneous fracture	Retai (1–4 %)

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Abnormal fallopian tube morphology	Labai dažnai (80–99%)
Ovarian cancer	Labai dažnai (80–99%)
Prostate cancer	Kartais (5–29%)
Urinary tract neoplasm	Kartais (5–29%)
Kidney cancer	Retai (1–4 %)
Testicular cancer	Retai (1–4 %)
Uterine cancer	Retai (1–4 %)

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Abnormal circulating lactate dehydrogenase concentration	Dažnai (30–79%)
Elevated alkaline phosphatase	Dažnai (30–79%)
Increased circulating lactate dehydrogenase concentration	Dažnai (30–79%)
Joint swelling	Dažnai (30–79%)
Abnormality of creatine metabolism	Kartais (5–29%)
Fever	Retai (1–4 %)

Abnormal tissue mass

Trait	Kaip dažnai pasireiškia
Abnormal tissue mass	Labai dažnai (80–99%)
Cancer of skin pigment cells	Kartais (5–29%)
Central primitive neuroectodermal tumor	Kartais (5–29%)
Head and neck tumor	Retai (1–4 %)
Cancer of connective tissue	Neužfiksuota

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Adrenocortical carcinoma	Kartais (5–29%)
Neoplasm of the thyroid gland	Kartais (5–29%)
Noncancerous tumor in pituitary gland	Kartais (5–29%)
Thyroid carcinoma	Retai (1–4 %)

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Amaurosis fugax	Kartais (5–29%)
Partial loss of field of vision	Kartais (5–29%)
Visual impairment	Kartais (5–29%)
Retina tumor	Neužfiksuota

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Abnormality of the wide portion of the femoral bone	Labai dažnai (80–99%)
Abnormality of the wide portion of a long bone	Dažnai (30–79%)
Abnormality of the wide portion of shankbone	Dažnai (30–79%)

Abnormality of the breast

Trait	Kaip dažnai pasireiškia
Breast cancer	Dažnai (30–79%)
Breast tumor	Neužfiksuota

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Lung cancer	Retai (1–4 %)
Neoplasm of the larynx	Retai (1–4 %)

Constitutional symptom

Trait	Kaip dažnai pasireiškia
Fatigue	Labai dažnai (80–99%)
Pain	Dažnai (30–79%)

Abnormality of prenatal development or birth

Trait	Kaip dažnai pasireiškia
Choriocarcinoma	Retai (1–4 %)

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Cardiac diverticulum	Kartais (5–29%)

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Basal cell carcinoma	Kartais (5–29%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Weight loss	Labai dažnai (80–99%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

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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