Trăsături

Trăsături asociate cu CHEK2

checkpoint kinase 2

Human Phenotype Ontology asociază 99 trăsături cu CHEK2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the nervous system

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

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Abdominal pain	Foarte des (80–99%)
Constipation	Foarte des (80–99%)
Malabsorption	Foarte des (80–99%)
Primary peritoneal carcinoma	Foarte des (80–99%)
Nausea and vomiting	Des (30–79%)
Rectal tumor	Des (30–79%)
Cancer of the pancreas	Uneori (5–29%)
Colon tumor	Uneori (5–29%)
Colorectal polyposis	Uneori (5–29%)
Gastrointestinal tract tumor	Uneori (5–29%)
Hepatocellular carcinoma	Uneori (5–29%)
Pancreatic adenocarcinoma	Uneori (5–29%)
Stomach cancer	Uneori (5–29%)
Colon cancer	Rar (1–4%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Gastrointestinal bleeding	Des (30–79%)
Blood cancer	Uneori (5–29%)
Cancer of lymphatic system	Uneori (5–29%)
Acute lymphoblastic leukemia	Rar (1–4%)
Acute myeloid leukemia	Rar (1–4%)
Hodgkin lymphoma	Rar (1–4%)
Myelodysplasia	Rar (1–4%)
Non-Hodgkin lymphoma	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Breakdown of bone	Foarte des (80–99%)
Low muscle tone	Des (30–79%)
Spasticity and rigidity of muscles	Des (30–79%)
Bone cell cancer	Uneori (5–29%)
Flexed joint that cannot be straightened	Uneori (5–29%)
Rhabdomyosarcoma	Uneori (5–29%)
Skeletal tumor	Uneori (5–29%)
Spontaneous fracture	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormal fallopian tube morphology	Foarte des (80–99%)
Ovarian cancer	Foarte des (80–99%)
Prostate cancer	Uneori (5–29%)
Urinary tract neoplasm	Uneori (5–29%)
Kidney cancer	Rar (1–4%)
Testicular cancer	Rar (1–4%)
Uterine cancer	Rar (1–4%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Abnormal circulating lactate dehydrogenase concentration	Des (30–79%)
Elevated alkaline phosphatase	Des (30–79%)
Increased circulating lactate dehydrogenase concentration	Des (30–79%)
Joint swelling	Des (30–79%)
Abnormality of creatine metabolism	Uneori (5–29%)
Fever	Rar (1–4%)

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Abnormal tissue mass	Foarte des (80–99%)
Cancer of skin pigment cells	Uneori (5–29%)
Central primitive neuroectodermal tumor	Uneori (5–29%)
Head and neck tumor	Rar (1–4%)
Cancer of connective tissue	Neînregistrat

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Adrenocortical carcinoma	Uneori (5–29%)
Neoplasm of the thyroid gland	Uneori (5–29%)
Noncancerous tumor in pituitary gland	Uneori (5–29%)
Thyroid carcinoma	Rar (1–4%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Amaurosis fugax	Uneori (5–29%)
Partial loss of field of vision	Uneori (5–29%)
Visual impairment	Uneori (5–29%)
Retina tumor	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Abnormality of the wide portion of the femoral bone	Foarte des (80–99%)
Abnormality of the wide portion of a long bone	Des (30–79%)
Abnormality of the wide portion of shankbone	Des (30–79%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Breast cancer	Des (30–79%)
Breast tumor	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Lung cancer	Rar (1–4%)
Neoplasm of the larynx	Rar (1–4%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Fatigue	Foarte des (80–99%)
Pain	Des (30–79%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Choriocarcinoma	Rar (1–4%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Cardiac diverticulum	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Basal cell carcinoma	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Weight loss	Foarte des (80–99%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu CHEK2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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