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

Abnormality of blood and blood-forming tissues

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

Abnormality of the digestive system

Trait	How often it is seen
Pancreatic adenocarcinoma	Always
Abdominal pain	Very often (80–99%)
Anorexia	Very often (80–99%)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Very often (80–99%)
Poor appetite	Very often (80–99%)
Primary peritoneal carcinoma	Very often (80–99%)
Extrahepatic cholestasis	Often (30–79%)
Functional intestinal obstruction	Often (30–79%)
Intestinal pseudo-obstruction	Often (30–79%)
Jaundice	Often (30–79%)
Cancer of the pancreas	Sometimes (5–29%)
Colon cancer	Sometimes (5–29%)
Colorectal polyposis	Sometimes (5–29%)
Gastrointestinal tract tumor	Sometimes (5–29%)
Intermittent diarrhea	Sometimes (5–29%)
Liver cancer	Sometimes (5–29%)
Nausea and vomiting	Sometimes (5–29%)
Peritoneal abscess	Sometimes (5–29%)
Stomach cancer	Sometimes (5–29%)
Rectal tumor	Rarely (1–4%)
Hepatocellular carcinoma	Not recorded
Hereditary nonpolyposis colorectal carcinoma	Not recorded
Micronodular cirrhosis	Not recorded
Nausea	Not recorded
Stomach tumor	Not recorded
Subacute progressive viral hepatitis	Not recorded
Vomiting	Not recorded

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%)
Abnormal absence of menstruation	Often (30–79%)
Abnormality of reproductive system physiology	Often (30–79%)
Testicular degeneration	Often (30–79%)
Abnormal libido	Sometimes (5–29%)
Light or infrequent menstrual periods	Sometimes (5–29%)
Ovarian carcinoma	Sometimes (5–29%)
Previous menstrual periods stop	Sometimes (5–29%)
Prostate cancer	Sometimes (5–29%)
Kidney cancer	Rarely (1–4%)
Testicular cancer	Rarely (1–4%)
Cancer starting in small tubes in kidneys	Not recorded
Nephroblastoma	Not recorded
Prostate neoplasm	Not recorded
Transitional cell carcinoma of the bladder	Not recorded
Uterine leiomyosarcoma	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Adrenocortical carcinoma	Always
Decreased activity of gonads	Always
Increased circulating cortisol level	Very often (80–99%)
Paradoxical increased cortisol secretion on dexamethasone suppression test	Very often (80–99%)
Pituitary corticotropic cell adenoma	Very often (80–99%)
Abnormal circulating dehydroepiandrosterone concentration	Often (30–79%)
Adrenocorticotropic hormone deficiency	Often (30–79%)
Elevated plasma aldosterone	Often (30–79%)
Elevated serum 11-deoxycortisol	Often (30–79%)
Enlarged adrenal glands	Often (30–79%)
Increased circulating ACTH level	Often (30–79%)
Increased circulating androgen concentration	Often (30–79%)
Increased circulating androstenedione concentration	Often (30–79%)
Increased serum estradiol	Often (30–79%)
Thyroid carcinoma	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Choroid plexus papilloma	Always
Reticular hyperpigmentation	Always
Buffalo hump	Often (30–79%)
Excessive hair growth	Often (30–79%)
Excessive hairiness	Often (30–79%)
Excessive sweating	Often (30–79%)
Patchy darkened skin	Often (30–79%)
Plethora	Often (30–79%)
Poor wound healing	Often (30–79%)
Stretch marks	Often (30–79%)
Thin skin	Often (30–79%)
Flushing	Sometimes (5–29%)
Open skin sore	Sometimes (5–29%)
Basal cell carcinoma	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Bone cell cancer	Always
Back pain	Very often (80–99%)
Breakdown of bone	Very often (80–99%)
Delayed bone maturation	Often (30–79%)
Fatiguable weakness of proximal limb muscles	Often (30–79%)
Muscle weakness	Often (30–79%)
Osteoporosis	Often (30–79%)
Wasting of muscles near the body	Often (30–79%)
Compression fracture of a vertebral body	Sometimes (5–29%)
Rhabdomyosarcoma	Sometimes (5–29%)
Spasticity and rigidity of muscles	Sometimes (5–29%)
Death of bone due to decreased blood supply	Rarely (1–4%)
Spontaneous fracture	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
High urine cortisol level	Very often (80–99%)
Abnormal circulating lactate dehydrogenase concentration	Often (30–79%)
Diabetes mellitus	Often (30–79%)
Elevated alkaline phosphatase	Often (30–79%)
Impaired glucose tolerance	Often (30–79%)
Increased circulating lactate dehydrogenase concentration	Often (30–79%)
Joint swelling	Often (30–79%)
Laboratory abnormality	Often (30–79%)
Low blood potassium levels	Often (30–79%)
High liver enzymes	Sometimes (5–29%)
Pee issues	Sometimes (5–29%)
Fever	Rarely (1–4%)
Increased level of L-fucose in urine	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the cerebral blood vessels	Very often (80–99%)
Heart attack	Very often (80–99%)
Abnormality of the cardiovascular system	Often (30–79%)
Capillary fragility	Often (30–79%)
High blood pressure	Often (30–79%)
Increased spleen size	Often (30–79%)
Palpitations	Often (30–79%)
Swollen lymph nodes	Often (30–79%)
Enlarged liver and spleen	Sometimes (5–29%)
Livedo reticularis	Sometimes (5–29%)
Mini stroke	Sometimes (5–29%)
Stroke	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Dark color of gums	Often (30–79%)
Moon face	Often (30–79%)
Big sella turcica	Sometimes (5–29%)
Sparse scalp hair	Sometimes (5–29%)
Neoplasia of the nasopharynx	Not recorded

Abnormality of the eye

Trait	How often it is seen
Amaurosis fugax	Very often (80–99%)
Visual impairment	Sometimes (5–29%)
Optic nerve compression	Rarely (1–4%)
Partial loss of field of vision	Rarely (1–4%)
Papilledema	Not recorded
Retina tumor	Not recorded

Growth abnormality

Trait	How often it is seen
Growth delay	Always
Short stature	Always
Weight loss	Very often (80–99%)
Abdominal obesity	Often (30–79%)
Increased body weight	Often (30–79%)
Truncal obesity	Often (30–79%)

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%)
Soft tissue sarcoma	Not recorded

Constitutional symptom

Trait	How often it is seen
Chest pain	Very often (80–99%)
Chronic fatigue	Very often (80–99%)
Fatigue	Very often (80–99%)
Pain	Often (30–79%)
Erythromelalgia	Sometimes (5–29%)

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

Abnormality of the respiratory system

Trait	How often it is seen
Lung adenocarcinoma	Often (30–79%)
Abnormality of the respiratory system	Sometimes (5–29%)
Lung cancer	Rarely (1–4%)
Neoplasm of the larynx	Rarely (1–4%)

Abnormality of the immune system

Trait	How often it is seen
Acne	Often (30–79%)
Decreased immune function	Often (30–79%)
Recurrent cutaneous fungal infections	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating antibody level	Always
Short telomere length	Always

Abnormality of prenatal development or birth

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

Abnormality of the breast

Trait	How often it is seen
Breast cancer	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Dizziness	Often (30–79%)

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

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