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

Abnormality of blood and blood-forming tissues

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

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Pancreatic adenocarcinoma	Alltid
Abdominal pain	Svært ofte (80–99 %)
Anorexia	Svært ofte (80–99 %)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Svært ofte (80–99 %)
Poor appetite	Svært ofte (80–99 %)
Primary peritoneal carcinoma	Svært ofte (80–99 %)
Extrahepatic cholestasis	Ofte (30–79 %)
Functional intestinal obstruction	Ofte (30–79 %)
Intestinal pseudo-obstruction	Ofte (30–79 %)
Jaundice	Ofte (30–79 %)
Cancer of the pancreas	Noen ganger (5–29 %)
Colon cancer	Noen ganger (5–29 %)
Colorectal polyposis	Noen ganger (5–29 %)
Gastrointestinal tract tumor	Noen ganger (5–29 %)
Intermittent diarrhea	Noen ganger (5–29 %)
Liver cancer	Noen ganger (5–29 %)
Nausea and vomiting	Noen ganger (5–29 %)
Peritoneal abscess	Noen ganger (5–29 %)
Stomach cancer	Noen ganger (5–29 %)
Rectal tumor	Sjelden (1–4%)
Hepatocellular carcinoma	Ikke registrert
Hereditary nonpolyposis colorectal carcinoma	Ikke registrert
Micronodular cirrhosis	Ikke registrert
Nausea	Ikke registrert
Stomach tumor	Ikke registrert
Subacute progressive viral hepatitis	Ikke registrert
Vomiting	Ikke registrert

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Abnormal fallopian tube morphology	Svært ofte (80–99 %)
Ovarian cancer	Svært ofte (80–99 %)
Abnormal absence of menstruation	Ofte (30–79 %)
Abnormality of reproductive system physiology	Ofte (30–79 %)
Testicular degeneration	Ofte (30–79 %)
Abnormal libido	Noen ganger (5–29 %)
Light or infrequent menstrual periods	Noen ganger (5–29 %)
Ovarian carcinoma	Noen ganger (5–29 %)
Previous menstrual periods stop	Noen ganger (5–29 %)
Prostate cancer	Noen ganger (5–29 %)
Kidney cancer	Sjelden (1–4%)
Testicular cancer	Sjelden (1–4%)
Cancer starting in small tubes in kidneys	Ikke registrert
Nephroblastoma	Ikke registrert
Prostate neoplasm	Ikke registrert
Transitional cell carcinoma of the bladder	Ikke registrert
Uterine leiomyosarcoma	Ikke registrert

Abnormality of the endocrine system

Trait	Hvor ofte den forekommer
Adrenocortical carcinoma	Alltid
Decreased activity of gonads	Alltid
Increased circulating cortisol level	Svært ofte (80–99 %)
Paradoxical increased cortisol secretion on dexamethasone suppression test	Svært ofte (80–99 %)
Pituitary corticotropic cell adenoma	Svært ofte (80–99 %)
Abnormal circulating dehydroepiandrosterone concentration	Ofte (30–79 %)
Adrenocorticotropic hormone deficiency	Ofte (30–79 %)
Elevated plasma aldosterone	Ofte (30–79 %)
Elevated serum 11-deoxycortisol	Ofte (30–79 %)
Enlarged adrenal glands	Ofte (30–79 %)
Increased circulating ACTH level	Ofte (30–79 %)
Increased circulating androgen concentration	Ofte (30–79 %)
Increased circulating androstenedione concentration	Ofte (30–79 %)
Increased serum estradiol	Ofte (30–79 %)
Thyroid carcinoma	Sjelden (1–4%)

Abnormality of the integument

Trait	Hvor ofte den forekommer
Choroid plexus papilloma	Alltid
Reticular hyperpigmentation	Alltid
Buffalo hump	Ofte (30–79 %)
Excessive hair growth	Ofte (30–79 %)
Excessive hairiness	Ofte (30–79 %)
Excessive sweating	Ofte (30–79 %)
Patchy darkened skin	Ofte (30–79 %)
Plethora	Ofte (30–79 %)
Poor wound healing	Ofte (30–79 %)
Stretch marks	Ofte (30–79 %)
Thin skin	Ofte (30–79 %)
Flushing	Noen ganger (5–29 %)
Open skin sore	Noen ganger (5–29 %)
Basal cell carcinoma	Ikke registrert

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Bone cell cancer	Alltid
Back pain	Svært ofte (80–99 %)
Breakdown of bone	Svært ofte (80–99 %)
Delayed bone maturation	Ofte (30–79 %)
Fatiguable weakness of proximal limb muscles	Ofte (30–79 %)
Muscle weakness	Ofte (30–79 %)
Osteoporosis	Ofte (30–79 %)
Wasting of muscles near the body	Ofte (30–79 %)
Compression fracture of a vertebral body	Noen ganger (5–29 %)
Rhabdomyosarcoma	Noen ganger (5–29 %)
Spasticity and rigidity of muscles	Noen ganger (5–29 %)
Death of bone due to decreased blood supply	Sjelden (1–4%)
Spontaneous fracture	Sjelden (1–4%)

Laboratory abnormality

Trait	Hvor ofte den forekommer
High urine cortisol level	Svært ofte (80–99 %)
Abnormal circulating lactate dehydrogenase concentration	Ofte (30–79 %)
Diabetes mellitus	Ofte (30–79 %)
Elevated alkaline phosphatase	Ofte (30–79 %)
Impaired glucose tolerance	Ofte (30–79 %)
Increased circulating lactate dehydrogenase concentration	Ofte (30–79 %)
Joint swelling	Ofte (30–79 %)
Laboratory abnormality	Ofte (30–79 %)
Low blood potassium levels	Ofte (30–79 %)
High liver enzymes	Noen ganger (5–29 %)
Pee issues	Noen ganger (5–29 %)
Fever	Sjelden (1–4%)
Increased level of L-fucose in urine	Ikke registrert

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Abnormality of the cerebral blood vessels	Svært ofte (80–99 %)
Heart attack	Svært ofte (80–99 %)
Abnormality of the cardiovascular system	Ofte (30–79 %)
Capillary fragility	Ofte (30–79 %)
High blood pressure	Ofte (30–79 %)
Increased spleen size	Ofte (30–79 %)
Palpitations	Ofte (30–79 %)
Swollen lymph nodes	Ofte (30–79 %)
Enlarged liver and spleen	Noen ganger (5–29 %)
Livedo reticularis	Noen ganger (5–29 %)
Mini stroke	Noen ganger (5–29 %)
Stroke	Noen ganger (5–29 %)

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Abnormally small head	Alltid
Dark color of gums	Ofte (30–79 %)
Moon face	Ofte (30–79 %)
Big sella turcica	Noen ganger (5–29 %)
Sparse scalp hair	Noen ganger (5–29 %)
Neoplasia of the nasopharynx	Ikke registrert

Abnormality of the eye

Trait	Hvor ofte den forekommer
Amaurosis fugax	Svært ofte (80–99 %)
Visual impairment	Noen ganger (5–29 %)
Optic nerve compression	Sjelden (1–4%)
Partial loss of field of vision	Sjelden (1–4%)
Papilledema	Ikke registrert
Retina tumor	Ikke registrert

Growth abnormality

Trait	Hvor ofte den forekommer
Growth delay	Alltid
Short stature	Alltid
Weight loss	Svært ofte (80–99 %)
Abdominal obesity	Ofte (30–79 %)
Increased body weight	Ofte (30–79 %)
Truncal obesity	Ofte (30–79 %)

Abnormal tissue mass

Trait	Hvor ofte den forekommer
Abnormal tissue mass	Svært ofte (80–99 %)
Cancer of skin pigment cells	Noen ganger (5–29 %)
Central primitive neuroectodermal tumor	Noen ganger (5–29 %)
Head and neck tumor	Sjelden (1–4%)
Soft tissue sarcoma	Ikke registrert

Constitutional symptom

Trait	Hvor ofte den forekommer
Chest pain	Svært ofte (80–99 %)
Chronic fatigue	Svært ofte (80–99 %)
Fatigue	Svært ofte (80–99 %)
Pain	Ofte (30–79 %)
Erythromelalgia	Noen ganger (5–29 %)

Abnormality of limbs

Trait	Hvor ofte den forekommer
Abnormality of the wide portion of the femoral bone	Svært ofte (80–99 %)
Abnormality of the wide portion of a long bone	Ofte (30–79 %)
Abnormality of the wide portion of shankbone	Ofte (30–79 %)
Fluid accumulation in lower limbs	Sjelden (1–4%)

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Lung adenocarcinoma	Ofte (30–79 %)
Abnormality of the respiratory system	Noen ganger (5–29 %)
Lung cancer	Sjelden (1–4%)
Neoplasm of the larynx	Sjelden (1–4%)

Abnormality of the immune system

Trait	Hvor ofte den forekommer
Acne	Ofte (30–79 %)
Decreased immune function	Ofte (30–79 %)
Recurrent cutaneous fungal infections	Noen ganger (5–29 %)

Abnormal cellular phenotype

Trait	Hvor ofte den forekommer
Decreased circulating antibody level	Alltid
Short telomere length	Alltid

Abnormality of prenatal development or birth

Trait	Hvor ofte den forekommer
Choriocarcinoma	Sjelden (1–4%)

Abnormality of the breast

Trait	Hvor ofte den forekommer
Breast cancer	Ofte (30–79 %)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Dizziness	Ofte (30–79 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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