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	How often it is seen
Glioblastoma multiforme	Very often (80–99%)
Anxiety	Often (30–79%)
Attention deficit	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Depression	Often (30–79%)
Epilepsy	Often (30–79%)
Irritability	Often (30–79%)
Migraine	Often (30–79%)
Rise in pressure inside skull	Often (30–79%)
Abnormal gait	Sometimes (5–29%)
Abnormal pyramidal sign	Sometimes (5–29%)
Abnormal speech pattern	Sometimes (5–29%)
Astrocytoma	Sometimes (5–29%)
Benign neoplasm of the central nervous system	Sometimes (5–29%)
Cancer of early nerve cells	Sometimes (5–29%)
Choroid plexus carcinoma	Sometimes (5–29%)
Difficulty articulating speech	Sometimes (5–29%)
Disorder of involuntary muscle movements	Sometimes (5–29%)
Disturbed sensory perception	Sometimes (5–29%)
Dysgraphia	Sometimes (5–29%)
Ependymoma	Sometimes (5–29%)
Hallucinations	Sometimes (5–29%)
Loss of developmental milestones	Sometimes (5–29%)
Memory impairment	Sometimes (5–29%)
Paralysis or weakness of one side of body	Sometimes (5–29%)
Pins and needles feeling	Sometimes (5–29%)
Tumors of the central nervous system	Sometimes (5–29%)
Medulloblastoma	Rarely (1–4%)
Glioma	Not recorded
Noncancerous growth of membranes covering brain	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Abdominal pain	Very often (80–99%)
Constipation	Very often (80–99%)
Malabsorption	Very often (80–99%)
Primary peritoneal carcinoma	Very often (80–99%)
Nausea and vomiting	Often (30–79%)
Rectal tumor	Often (30–79%)
Cancer of the pancreas	Sometimes (5–29%)
Colon tumor	Sometimes (5–29%)
Colorectal polyposis	Sometimes (5–29%)
Gastrointestinal tract tumor	Sometimes (5–29%)
Hepatocellular carcinoma	Sometimes (5–29%)
Pancreatic adenocarcinoma	Sometimes (5–29%)
Stomach cancer	Sometimes (5–29%)
Colon cancer	Rarely (1–4%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Gastrointestinal bleeding	Often (30–79%)
Blood cancer	Sometimes (5–29%)
Cancer of lymphatic system	Sometimes (5–29%)
Acute lymphoblastic leukemia	Rarely (1–4%)
Acute myeloid leukemia	Rarely (1–4%)
Hodgkin lymphoma	Rarely (1–4%)
Myelodysplasia	Rarely (1–4%)
Non-Hodgkin lymphoma	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Breakdown of bone	Very often (80–99%)
Low muscle tone	Often (30–79%)
Spasticity and rigidity of muscles	Often (30–79%)
Bone cell cancer	Sometimes (5–29%)
Flexed joint that cannot be straightened	Sometimes (5–29%)
Rhabdomyosarcoma	Sometimes (5–29%)
Skeletal tumor	Sometimes (5–29%)
Spontaneous fracture	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal fallopian tube morphology	Very often (80–99%)
Ovarian cancer	Very often (80–99%)
Prostate cancer	Sometimes (5–29%)
Urinary tract neoplasm	Sometimes (5–29%)
Kidney cancer	Rarely (1–4%)
Testicular cancer	Rarely (1–4%)
Uterine cancer	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
Abnormal circulating lactate dehydrogenase concentration	Often (30–79%)
Elevated alkaline phosphatase	Often (30–79%)
Increased circulating lactate dehydrogenase concentration	Often (30–79%)
Joint swelling	Often (30–79%)
Abnormality of creatine metabolism	Sometimes (5–29%)
Fever	Rarely (1–4%)

Abnormal tissue mass

Trait	How often it is seen
Abnormal tissue mass	Very often (80–99%)
Cancer of skin pigment cells	Sometimes (5–29%)
Central primitive neuroectodermal tumor	Sometimes (5–29%)
Head and neck tumor	Rarely (1–4%)
Cancer of connective tissue	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Adrenocortical carcinoma	Sometimes (5–29%)
Neoplasm of the thyroid gland	Sometimes (5–29%)
Noncancerous tumor in pituitary gland	Sometimes (5–29%)
Thyroid carcinoma	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Amaurosis fugax	Sometimes (5–29%)
Partial loss of field of vision	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)
Retina tumor	Not recorded

Abnormality of limbs

Trait	How often it is seen
Abnormality of the wide portion of the femoral bone	Very often (80–99%)
Abnormality of the wide portion of a long bone	Often (30–79%)
Abnormality of the wide portion of shankbone	Often (30–79%)

Abnormality of the breast

Trait	How often it is seen
Breast cancer	Often (30–79%)
Breast tumor	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Lung cancer	Rarely (1–4%)
Neoplasm of the larynx	Rarely (1–4%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Very often (80–99%)
Pain	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Choriocarcinoma	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Cardiac diverticulum	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Basal cell carcinoma	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Weight loss	Very often (80–99%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

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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