Traits

Traits linked to TP53

tumor protein p53

The Human Phenotype Ontology links 214 traits to TP53, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Choroid plexus carcinoma	Visada
Global developmental delay	Visada
Intellectual disability	Visada
Abnormal shape of nervous system	Labai dažnai (80–99%)
Pins and needles feeling	Labai dažnai (80–99%)
Too much cerebrospinal fluid in the brain	Labai dažnai (80–99%)
Anxiety	Dažnai (30–79%)
Behavioral abnormality	Dažnai (30–79%)
Can't control feelings	Dažnai (30–79%)
Difficulty staying or falling asleep	Dažnai (30–79%)
Grand mal seizures	Dažnai (30–79%)
Headache	Dažnai (30–79%)
Irritability	Dažnai (30–79%)
Migraine	Dažnai (30–79%)
Panic attack	Dažnai (30–79%)
Astrocytoma	Kartais (5–29%)
Cognitive impairment	Kartais (5–29%)
Depression	Kartais (5–29%)
Ependymoma	Kartais (5–29%)
Epilepsy	Kartais (5–29%)
Glioblastoma multiforme	Kartais (5–29%)
Memory impairment	Kartais (5–29%)
Paralysis or weakness of one side of body	Kartais (5–29%)
Psychotic episodes	Kartais (5–29%)
Suicidal ideation	Kartais (5–29%)
Tumors of the central nervous system	Kartais (5–29%)
Dementia	Retai (1–4 %)
Medulloblastoma	Retai (1–4 %)
Paranoia	Retai (1–4 %)
Psychosis	Retai (1–4 %)

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Erythroid hypoplasia	Visada
Low number of red blood cells or hemoglobin	Visada
Pure red cell aplasia	Visada
Abnormal shape of platelets	Labai dažnai (80–99%)
Blood clot in artery	Labai dažnai (80–99%)
Blood clot in vein	Labai dažnai (80–99%)
Bone marrow disease	Labai dažnai (80–99%)
Increased megakaryocyte count	Labai dažnai (80–99%)
Increased number of platelets in blood	Labai dažnai (80–99%)
Megakaryocyte nucleus hyperlobulation	Labai dažnai (80–99%)
Platelet abnormalities	Labai dažnai (80–99%)
Prolonged bleeding time	Labai dažnai (80–99%)
Bleeding tendency	Dažnai (30–79%)
Bruising susceptibility	Dažnai (30–79%)
Decreased blood lymphocyte number	Dažnai (30–79%)
Decreased total eosinophil count	Dažnai (30–79%)
Elevated white blood count	Dažnai (30–79%)
Acute blood cancer	Kartais (5–29%)
Blood cancer	Kartais (5–29%)
Blood clot in liver vein	Kartais (5–29%)
Blood spots	Kartais (5–29%)
Cancer of lymphatic system	Kartais (5–29%)
Ecchymosis	Kartais (5–29%)
Myelodysplasia	Kartais (5–29%)
Myelofibrosis	Kartais (5–29%)
Acute lymphoblastic leukemia	Retai (1–4 %)
Acute myeloid leukemia	Retai (1–4 %)
Hodgkin lymphoma	Retai (1–4 %)
Non-Hodgkin lymphoma	Retai (1–4 %)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Pancreatic adenocarcinoma	Visada
Abdominal pain	Labai dažnai (80–99%)
Anorexia	Labai dažnai (80–99%)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Labai dažnai (80–99%)
Poor appetite	Labai dažnai (80–99%)
Primary peritoneal carcinoma	Labai dažnai (80–99%)
Extrahepatic cholestasis	Dažnai (30–79%)
Functional intestinal obstruction	Dažnai (30–79%)
Intestinal pseudo-obstruction	Dažnai (30–79%)
Jaundice	Dažnai (30–79%)
Cancer of the pancreas	Kartais (5–29%)
Colon cancer	Kartais (5–29%)
Colorectal polyposis	Kartais (5–29%)
Gastrointestinal tract tumor	Kartais (5–29%)
Intermittent diarrhea	Kartais (5–29%)
Liver cancer	Kartais (5–29%)
Nausea and vomiting	Kartais (5–29%)
Peritoneal abscess	Kartais (5–29%)
Stomach cancer	Kartais (5–29%)
Rectal tumor	Retai (1–4 %)
Hepatocellular carcinoma	Neužfiksuota
Hereditary nonpolyposis colorectal carcinoma	Neužfiksuota
Micronodular cirrhosis	Neužfiksuota
Nausea	Neužfiksuota
Stomach tumor	Neužfiksuota
Subacute progressive viral hepatitis	Neužfiksuota
Vomiting	Neužfiksuota

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Abnormal fallopian tube morphology	Labai dažnai (80–99%)
Ovarian cancer	Labai dažnai (80–99%)
Abnormal absence of menstruation	Dažnai (30–79%)
Abnormality of reproductive system physiology	Dažnai (30–79%)
Testicular degeneration	Dažnai (30–79%)
Abnormal libido	Kartais (5–29%)
Light or infrequent menstrual periods	Kartais (5–29%)
Ovarian carcinoma	Kartais (5–29%)
Previous menstrual periods stop	Kartais (5–29%)
Prostate cancer	Kartais (5–29%)
Kidney cancer	Retai (1–4 %)
Testicular cancer	Retai (1–4 %)
Cancer starting in small tubes in kidneys	Neužfiksuota
Nephroblastoma	Neužfiksuota
Prostate neoplasm	Neužfiksuota
Transitional cell carcinoma of the bladder	Neužfiksuota
Uterine leiomyosarcoma	Neužfiksuota

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Adrenocortical carcinoma	Visada
Decreased activity of gonads	Visada
Increased circulating cortisol level	Labai dažnai (80–99%)
Paradoxical increased cortisol secretion on dexamethasone suppression test	Labai dažnai (80–99%)
Pituitary corticotropic cell adenoma	Labai dažnai (80–99%)
Abnormal circulating dehydroepiandrosterone concentration	Dažnai (30–79%)
Adrenocorticotropic hormone deficiency	Dažnai (30–79%)
Elevated plasma aldosterone	Dažnai (30–79%)
Elevated serum 11-deoxycortisol	Dažnai (30–79%)
Enlarged adrenal glands	Dažnai (30–79%)
Increased circulating ACTH level	Dažnai (30–79%)
Increased circulating androgen concentration	Dažnai (30–79%)
Increased circulating androstenedione concentration	Dažnai (30–79%)
Increased serum estradiol	Dažnai (30–79%)
Thyroid carcinoma	Retai (1–4 %)

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Choroid plexus papilloma	Visada
Reticular hyperpigmentation	Visada
Buffalo hump	Dažnai (30–79%)
Excessive hair growth	Dažnai (30–79%)
Excessive hairiness	Dažnai (30–79%)
Excessive sweating	Dažnai (30–79%)
Patchy darkened skin	Dažnai (30–79%)
Plethora	Dažnai (30–79%)
Poor wound healing	Dažnai (30–79%)
Stretch marks	Dažnai (30–79%)
Thin skin	Dažnai (30–79%)
Flushing	Kartais (5–29%)
Open skin sore	Kartais (5–29%)
Basal cell carcinoma	Neužfiksuota

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Bone cell cancer	Visada
Back pain	Labai dažnai (80–99%)
Breakdown of bone	Labai dažnai (80–99%)
Delayed bone maturation	Dažnai (30–79%)
Fatiguable weakness of proximal limb muscles	Dažnai (30–79%)
Muscle weakness	Dažnai (30–79%)
Osteoporosis	Dažnai (30–79%)
Wasting of muscles near the body	Dažnai (30–79%)
Compression fracture of a vertebral body	Kartais (5–29%)
Rhabdomyosarcoma	Kartais (5–29%)
Spasticity and rigidity of muscles	Kartais (5–29%)
Death of bone due to decreased blood supply	Retai (1–4 %)
Spontaneous fracture	Retai (1–4 %)

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
High urine cortisol level	Labai dažnai (80–99%)
Abnormal circulating lactate dehydrogenase concentration	Dažnai (30–79%)
Diabetes mellitus	Dažnai (30–79%)
Elevated alkaline phosphatase	Dažnai (30–79%)
Impaired glucose tolerance	Dažnai (30–79%)
Increased circulating lactate dehydrogenase concentration	Dažnai (30–79%)
Joint swelling	Dažnai (30–79%)
Laboratory abnormality	Dažnai (30–79%)
Low blood potassium levels	Dažnai (30–79%)
High liver enzymes	Kartais (5–29%)
Pee issues	Kartais (5–29%)
Fever	Retai (1–4 %)
Increased level of L-fucose in urine	Neužfiksuota

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Abnormality of the cerebral blood vessels	Labai dažnai (80–99%)
Heart attack	Labai dažnai (80–99%)
Abnormality of the cardiovascular system	Dažnai (30–79%)
Capillary fragility	Dažnai (30–79%)
High blood pressure	Dažnai (30–79%)
Increased spleen size	Dažnai (30–79%)
Palpitations	Dažnai (30–79%)
Swollen lymph nodes	Dažnai (30–79%)
Enlarged liver and spleen	Kartais (5–29%)
Livedo reticularis	Kartais (5–29%)
Mini stroke	Kartais (5–29%)
Stroke	Kartais (5–29%)

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Abnormally small head	Visada
Dark color of gums	Dažnai (30–79%)
Moon face	Dažnai (30–79%)
Big sella turcica	Kartais (5–29%)
Sparse scalp hair	Kartais (5–29%)
Neoplasia of the nasopharynx	Neužfiksuota

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Amaurosis fugax	Labai dažnai (80–99%)
Visual impairment	Kartais (5–29%)
Optic nerve compression	Retai (1–4 %)
Partial loss of field of vision	Retai (1–4 %)
Papilledema	Neužfiksuota
Retina tumor	Neužfiksuota

Growth abnormality

Trait	Kaip dažnai pasireiškia
Growth delay	Visada
Short stature	Visada
Weight loss	Labai dažnai (80–99%)
Abdominal obesity	Dažnai (30–79%)
Increased body weight	Dažnai (30–79%)
Truncal obesity	Dažnai (30–79%)

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 %)
Soft tissue sarcoma	Neužfiksuota

Constitutional symptom

Trait	Kaip dažnai pasireiškia
Chest pain	Labai dažnai (80–99%)
Chronic fatigue	Labai dažnai (80–99%)
Fatigue	Labai dažnai (80–99%)
Pain	Dažnai (30–79%)
Erythromelalgia	Kartais (5–29%)

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%)
Fluid accumulation in lower limbs	Retai (1–4 %)

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Lung adenocarcinoma	Dažnai (30–79%)
Abnormality of the respiratory system	Kartais (5–29%)
Lung cancer	Retai (1–4 %)
Neoplasm of the larynx	Retai (1–4 %)

Abnormality of the immune system

Trait	Kaip dažnai pasireiškia
Acne	Dažnai (30–79%)
Decreased immune function	Dažnai (30–79%)
Recurrent cutaneous fungal infections	Kartais (5–29%)

Abnormal cellular phenotype

Trait	Kaip dažnai pasireiškia
Decreased circulating antibody level	Visada
Short telomere length	Visada

Abnormality of prenatal development or birth

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

Abnormality of the breast

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

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Dizziness	Dažnai (30–79%)

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 TP53 and how often each is seen. Find out more at hpo.jax.org.

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