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

Abnormality of blood and blood-forming tissues

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

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Pancreatic adenocarcinoma	Alati
Abdominal pain	Väga sageli (80–99%)
Anorexia	Väga sageli (80–99%)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Väga sageli (80–99%)
Poor appetite	Väga sageli (80–99%)
Primary peritoneal carcinoma	Väga sageli (80–99%)
Extrahepatic cholestasis	Sageli (30–79%)
Functional intestinal obstruction	Sageli (30–79%)
Intestinal pseudo-obstruction	Sageli (30–79%)
Jaundice	Sageli (30–79%)
Cancer of the pancreas	Mõnikord (5–29%)
Colon cancer	Mõnikord (5–29%)
Colorectal polyposis	Mõnikord (5–29%)
Gastrointestinal tract tumor	Mõnikord (5–29%)
Intermittent diarrhea	Mõnikord (5–29%)
Liver cancer	Mõnikord (5–29%)
Nausea and vomiting	Mõnikord (5–29%)
Peritoneal abscess	Mõnikord (5–29%)
Stomach cancer	Mõnikord (5–29%)
Rectal tumor	Harva (1–4%)
Hepatocellular carcinoma	Pole registreeritud
Hereditary nonpolyposis colorectal carcinoma	Pole registreeritud
Micronodular cirrhosis	Pole registreeritud
Nausea	Pole registreeritud
Stomach tumor	Pole registreeritud
Subacute progressive viral hepatitis	Pole registreeritud
Vomiting	Pole registreeritud

Abnormality of the genitourinary system

Trait	Kui sageli seda täheldatakse
Abnormal fallopian tube morphology	Väga sageli (80–99%)
Ovarian cancer	Väga sageli (80–99%)
Abnormal absence of menstruation	Sageli (30–79%)
Abnormality of reproductive system physiology	Sageli (30–79%)
Testicular degeneration	Sageli (30–79%)
Abnormal libido	Mõnikord (5–29%)
Light or infrequent menstrual periods	Mõnikord (5–29%)
Ovarian carcinoma	Mõnikord (5–29%)
Previous menstrual periods stop	Mõnikord (5–29%)
Prostate cancer	Mõnikord (5–29%)
Kidney cancer	Harva (1–4%)
Testicular cancer	Harva (1–4%)
Cancer starting in small tubes in kidneys	Pole registreeritud
Nephroblastoma	Pole registreeritud
Prostate neoplasm	Pole registreeritud
Transitional cell carcinoma of the bladder	Pole registreeritud
Uterine leiomyosarcoma	Pole registreeritud

Abnormality of the endocrine system

Trait	Kui sageli seda täheldatakse
Adrenocortical carcinoma	Alati
Decreased activity of gonads	Alati
Increased circulating cortisol level	Väga sageli (80–99%)
Paradoxical increased cortisol secretion on dexamethasone suppression test	Väga sageli (80–99%)
Pituitary corticotropic cell adenoma	Väga sageli (80–99%)
Abnormal circulating dehydroepiandrosterone concentration	Sageli (30–79%)
Adrenocorticotropic hormone deficiency	Sageli (30–79%)
Elevated plasma aldosterone	Sageli (30–79%)
Elevated serum 11-deoxycortisol	Sageli (30–79%)
Enlarged adrenal glands	Sageli (30–79%)
Increased circulating ACTH level	Sageli (30–79%)
Increased circulating androgen concentration	Sageli (30–79%)
Increased circulating androstenedione concentration	Sageli (30–79%)
Increased serum estradiol	Sageli (30–79%)
Thyroid carcinoma	Harva (1–4%)

Abnormality of the integument

Trait	Kui sageli seda täheldatakse
Choroid plexus papilloma	Alati
Reticular hyperpigmentation	Alati
Buffalo hump	Sageli (30–79%)
Excessive hair growth	Sageli (30–79%)
Excessive hairiness	Sageli (30–79%)
Excessive sweating	Sageli (30–79%)
Patchy darkened skin	Sageli (30–79%)
Plethora	Sageli (30–79%)
Poor wound healing	Sageli (30–79%)
Stretch marks	Sageli (30–79%)
Thin skin	Sageli (30–79%)
Flushing	Mõnikord (5–29%)
Open skin sore	Mõnikord (5–29%)
Basal cell carcinoma	Pole registreeritud

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Bone cell cancer	Alati
Back pain	Väga sageli (80–99%)
Breakdown of bone	Väga sageli (80–99%)
Delayed bone maturation	Sageli (30–79%)
Fatiguable weakness of proximal limb muscles	Sageli (30–79%)
Muscle weakness	Sageli (30–79%)
Osteoporosis	Sageli (30–79%)
Wasting of muscles near the body	Sageli (30–79%)
Compression fracture of a vertebral body	Mõnikord (5–29%)
Rhabdomyosarcoma	Mõnikord (5–29%)
Spasticity and rigidity of muscles	Mõnikord (5–29%)
Death of bone due to decreased blood supply	Harva (1–4%)
Spontaneous fracture	Harva (1–4%)

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
High urine cortisol level	Väga sageli (80–99%)
Abnormal circulating lactate dehydrogenase concentration	Sageli (30–79%)
Diabetes mellitus	Sageli (30–79%)
Elevated alkaline phosphatase	Sageli (30–79%)
Impaired glucose tolerance	Sageli (30–79%)
Increased circulating lactate dehydrogenase concentration	Sageli (30–79%)
Joint swelling	Sageli (30–79%)
Laboratory abnormality	Sageli (30–79%)
Low blood potassium levels	Sageli (30–79%)
High liver enzymes	Mõnikord (5–29%)
Pee issues	Mõnikord (5–29%)
Fever	Harva (1–4%)
Increased level of L-fucose in urine	Pole registreeritud

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
Abnormality of the cerebral blood vessels	Väga sageli (80–99%)
Heart attack	Väga sageli (80–99%)
Abnormality of the cardiovascular system	Sageli (30–79%)
Capillary fragility	Sageli (30–79%)
High blood pressure	Sageli (30–79%)
Increased spleen size	Sageli (30–79%)
Palpitations	Sageli (30–79%)
Swollen lymph nodes	Sageli (30–79%)
Enlarged liver and spleen	Mõnikord (5–29%)
Livedo reticularis	Mõnikord (5–29%)
Mini stroke	Mõnikord (5–29%)
Stroke	Mõnikord (5–29%)

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Abnormally small head	Alati
Dark color of gums	Sageli (30–79%)
Moon face	Sageli (30–79%)
Big sella turcica	Mõnikord (5–29%)
Sparse scalp hair	Mõnikord (5–29%)
Neoplasia of the nasopharynx	Pole registreeritud

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Amaurosis fugax	Väga sageli (80–99%)
Visual impairment	Mõnikord (5–29%)
Optic nerve compression	Harva (1–4%)
Partial loss of field of vision	Harva (1–4%)
Papilledema	Pole registreeritud
Retina tumor	Pole registreeritud

Growth abnormality

Trait	Kui sageli seda täheldatakse
Growth delay	Alati
Short stature	Alati
Weight loss	Väga sageli (80–99%)
Abdominal obesity	Sageli (30–79%)
Increased body weight	Sageli (30–79%)
Truncal obesity	Sageli (30–79%)

Abnormal tissue mass

Trait	Kui sageli seda täheldatakse
Abnormal tissue mass	Väga sageli (80–99%)
Cancer of skin pigment cells	Mõnikord (5–29%)
Central primitive neuroectodermal tumor	Mõnikord (5–29%)
Head and neck tumor	Harva (1–4%)
Soft tissue sarcoma	Pole registreeritud

Constitutional symptom

Trait	Kui sageli seda täheldatakse
Chest pain	Väga sageli (80–99%)
Chronic fatigue	Väga sageli (80–99%)
Fatigue	Väga sageli (80–99%)
Pain	Sageli (30–79%)
Erythromelalgia	Mõnikord (5–29%)

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Abnormality of the wide portion of the femoral bone	Väga sageli (80–99%)
Abnormality of the wide portion of a long bone	Sageli (30–79%)
Abnormality of the wide portion of shankbone	Sageli (30–79%)
Fluid accumulation in lower limbs	Harva (1–4%)

Abnormality of the respiratory system

Trait	Kui sageli seda täheldatakse
Lung adenocarcinoma	Sageli (30–79%)
Abnormality of the respiratory system	Mõnikord (5–29%)
Lung cancer	Harva (1–4%)
Neoplasm of the larynx	Harva (1–4%)

Abnormality of the immune system

Trait	Kui sageli seda täheldatakse
Acne	Sageli (30–79%)
Decreased immune function	Sageli (30–79%)
Recurrent cutaneous fungal infections	Mõnikord (5–29%)

Abnormal cellular phenotype

Trait	Kui sageli seda täheldatakse
Decreased circulating antibody level	Alati
Short telomere length	Alati

Abnormality of prenatal development or birth

Trait	Kui sageli seda täheldatakse
Choriocarcinoma	Harva (1–4%)

Abnormality of the breast

Trait	Kui sageli seda täheldatakse
Breast cancer	Sageli (30–79%)

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Dizziness	Sageli (30–79%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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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