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

Trait	나타나는 빈도
Abdominal pain	매우 자주 (80–99%)
Constipation	매우 자주 (80–99%)
Malabsorption	매우 자주 (80–99%)
Primary peritoneal carcinoma	매우 자주 (80–99%)
Nausea and vomiting	자주 (30–79%)
Rectal tumor	자주 (30–79%)
Cancer of the pancreas	가끔 (5–29%)
Colon tumor	가끔 (5–29%)
Colorectal polyposis	가끔 (5–29%)
Gastrointestinal tract tumor	가끔 (5–29%)
Hepatocellular carcinoma	가끔 (5–29%)
Pancreatic adenocarcinoma	가끔 (5–29%)
Stomach cancer	가끔 (5–29%)
Colon cancer	드물게 (1–4%)

Trait	나타나는 빈도
Gastrointestinal bleeding	자주 (30–79%)
Blood cancer	가끔 (5–29%)
Cancer of lymphatic system	가끔 (5–29%)
Acute lymphoblastic leukemia	드물게 (1–4%)
Acute myeloid leukemia	드물게 (1–4%)
Hodgkin lymphoma	드물게 (1–4%)
Myelodysplasia	드물게 (1–4%)
Non-Hodgkin lymphoma	드물게 (1–4%)

Trait	나타나는 빈도
Breakdown of bone	매우 자주 (80–99%)
Low muscle tone	자주 (30–79%)
Spasticity and rigidity of muscles	자주 (30–79%)
Bone cell cancer	가끔 (5–29%)
Flexed joint that cannot be straightened	가끔 (5–29%)
Rhabdomyosarcoma	가끔 (5–29%)
Skeletal tumor	가끔 (5–29%)
Spontaneous fracture	드물게 (1–4%)

Trait	나타나는 빈도
Abnormal fallopian tube morphology	매우 자주 (80–99%)
Ovarian cancer	매우 자주 (80–99%)
Prostate cancer	가끔 (5–29%)
Urinary tract neoplasm	가끔 (5–29%)
Kidney cancer	드물게 (1–4%)
Testicular cancer	드물게 (1–4%)
Uterine cancer	드물게 (1–4%)

Trait	나타나는 빈도
Abnormal circulating lactate dehydrogenase concentration	자주 (30–79%)
Elevated alkaline phosphatase	자주 (30–79%)
Increased circulating lactate dehydrogenase concentration	자주 (30–79%)
Joint swelling	자주 (30–79%)
Abnormality of creatine metabolism	가끔 (5–29%)
Fever	드물게 (1–4%)

Trait	나타나는 빈도
Abnormal tissue mass	매우 자주 (80–99%)
Cancer of skin pigment cells	가끔 (5–29%)
Central primitive neuroectodermal tumor	가끔 (5–29%)
Head and neck tumor	드물게 (1–4%)
Cancer of connective tissue	기록되지 않음

Trait	나타나는 빈도
Adrenocortical carcinoma	가끔 (5–29%)
Neoplasm of the thyroid gland	가끔 (5–29%)
Noncancerous tumor in pituitary gland	가끔 (5–29%)
Thyroid carcinoma	드물게 (1–4%)

Trait	나타나는 빈도
Amaurosis fugax	가끔 (5–29%)
Partial loss of field of vision	가끔 (5–29%)
Visual impairment	가끔 (5–29%)
Retina tumor	기록되지 않음

Trait	나타나는 빈도
Abnormality of the wide portion of the femoral bone	매우 자주 (80–99%)
Abnormality of the wide portion of a long bone	자주 (30–79%)
Abnormality of the wide portion of shankbone	자주 (30–79%)

Trait	나타나는 빈도
Breast cancer	자주 (30–79%)
Breast tumor	기록되지 않음

Trait	나타나는 빈도
Lung cancer	드물게 (1–4%)
Neoplasm of the larynx	드물게 (1–4%)

Trait	나타나는 빈도
Fatigue	매우 자주 (80–99%)
Pain	자주 (30–79%)

Trait	나타나는 빈도
Choriocarcinoma	드물게 (1–4%)

Trait	나타나는 빈도
Cardiac diverticulum	가끔 (5–29%)

Trait	나타나는 빈도
Basal cell carcinoma	가끔 (5–29%)

Trait	나타나는 빈도
Weight loss	매우 자주 (80–99%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

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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