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

Abnormality of blood and blood-forming tissues

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

Abnormality of the digestive system

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

Abnormality of the genitourinary system

Trait	Hur ofta den förekommer
Abnormal fallopian tube morphology	Mycket ofta (80–99 %)
Ovarian cancer	Mycket ofta (80–99 %)
Abnormal absence of menstruation	Ofta (30–79 %)
Abnormality of reproductive system physiology	Ofta (30–79 %)
Testicular degeneration	Ofta (30–79 %)
Abnormal libido	Ibland (5–29 %)
Light or infrequent menstrual periods	Ibland (5–29 %)
Ovarian carcinoma	Ibland (5–29 %)
Previous menstrual periods stop	Ibland (5–29 %)
Prostate cancer	Ibland (5–29 %)
Kidney cancer	Sällan (1–4%)
Testicular cancer	Sällan (1–4%)
Cancer starting in small tubes in kidneys	Inte registrerat
Nephroblastoma	Inte registrerat
Prostate neoplasm	Inte registrerat
Transitional cell carcinoma of the bladder	Inte registrerat
Uterine leiomyosarcoma	Inte registrerat

Abnormality of the endocrine system

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

Abnormality of the integument

Trait	Hur ofta den förekommer
Choroid plexus papilloma	Alltid
Reticular hyperpigmentation	Alltid
Buffalo hump	Ofta (30–79 %)
Excessive hair growth	Ofta (30–79 %)
Excessive hairiness	Ofta (30–79 %)
Excessive sweating	Ofta (30–79 %)
Patchy darkened skin	Ofta (30–79 %)
Plethora	Ofta (30–79 %)
Poor wound healing	Ofta (30–79 %)
Stretch marks	Ofta (30–79 %)
Thin skin	Ofta (30–79 %)
Flushing	Ibland (5–29 %)
Open skin sore	Ibland (5–29 %)
Basal cell carcinoma	Inte registrerat

Abnormality of the musculoskeletal system

Trait	Hur ofta den förekommer
Bone cell cancer	Alltid
Back pain	Mycket ofta (80–99 %)
Breakdown of bone	Mycket ofta (80–99 %)
Delayed bone maturation	Ofta (30–79 %)
Fatiguable weakness of proximal limb muscles	Ofta (30–79 %)
Muscle weakness	Ofta (30–79 %)
Osteoporosis	Ofta (30–79 %)
Wasting of muscles near the body	Ofta (30–79 %)
Compression fracture of a vertebral body	Ibland (5–29 %)
Rhabdomyosarcoma	Ibland (5–29 %)
Spasticity and rigidity of muscles	Ibland (5–29 %)
Death of bone due to decreased blood supply	Sällan (1–4%)
Spontaneous fracture	Sällan (1–4%)

Laboratory abnormality

Trait	Hur ofta den förekommer
High urine cortisol level	Mycket ofta (80–99 %)
Abnormal circulating lactate dehydrogenase concentration	Ofta (30–79 %)
Diabetes mellitus	Ofta (30–79 %)
Elevated alkaline phosphatase	Ofta (30–79 %)
Impaired glucose tolerance	Ofta (30–79 %)
Increased circulating lactate dehydrogenase concentration	Ofta (30–79 %)
Joint swelling	Ofta (30–79 %)
Laboratory abnormality	Ofta (30–79 %)
Low blood potassium levels	Ofta (30–79 %)
High liver enzymes	Ibland (5–29 %)
Pee issues	Ibland (5–29 %)
Fever	Sällan (1–4%)
Increased level of L-fucose in urine	Inte registrerat

Abnormality of the cardiovascular system

Trait	Hur ofta den förekommer
Abnormality of the cerebral blood vessels	Mycket ofta (80–99 %)
Heart attack	Mycket ofta (80–99 %)
Abnormality of the cardiovascular system	Ofta (30–79 %)
Capillary fragility	Ofta (30–79 %)
High blood pressure	Ofta (30–79 %)
Increased spleen size	Ofta (30–79 %)
Palpitations	Ofta (30–79 %)
Swollen lymph nodes	Ofta (30–79 %)
Enlarged liver and spleen	Ibland (5–29 %)
Livedo reticularis	Ibland (5–29 %)
Mini stroke	Ibland (5–29 %)
Stroke	Ibland (5–29 %)

Abnormality of head or neck

Trait	Hur ofta den förekommer
Abnormally small head	Alltid
Dark color of gums	Ofta (30–79 %)
Moon face	Ofta (30–79 %)
Big sella turcica	Ibland (5–29 %)
Sparse scalp hair	Ibland (5–29 %)
Neoplasia of the nasopharynx	Inte registrerat

Abnormality of the eye

Trait	Hur ofta den förekommer
Amaurosis fugax	Mycket ofta (80–99 %)
Visual impairment	Ibland (5–29 %)
Optic nerve compression	Sällan (1–4%)
Partial loss of field of vision	Sällan (1–4%)
Papilledema	Inte registrerat
Retina tumor	Inte registrerat

Growth abnormality

Trait	Hur ofta den förekommer
Growth delay	Alltid
Short stature	Alltid
Weight loss	Mycket ofta (80–99 %)
Abdominal obesity	Ofta (30–79 %)
Increased body weight	Ofta (30–79 %)
Truncal obesity	Ofta (30–79 %)

Abnormal tissue mass

Trait	Hur ofta den förekommer
Abnormal tissue mass	Mycket ofta (80–99 %)
Cancer of skin pigment cells	Ibland (5–29 %)
Central primitive neuroectodermal tumor	Ibland (5–29 %)
Head and neck tumor	Sällan (1–4%)
Soft tissue sarcoma	Inte registrerat

Constitutional symptom

Trait	Hur ofta den förekommer
Chest pain	Mycket ofta (80–99 %)
Chronic fatigue	Mycket ofta (80–99 %)
Fatigue	Mycket ofta (80–99 %)
Pain	Ofta (30–79 %)
Erythromelalgia	Ibland (5–29 %)

Abnormality of limbs

Trait	Hur ofta den förekommer
Abnormality of the wide portion of the femoral bone	Mycket ofta (80–99 %)
Abnormality of the wide portion of a long bone	Ofta (30–79 %)
Abnormality of the wide portion of shankbone	Ofta (30–79 %)
Fluid accumulation in lower limbs	Sällan (1–4%)

Abnormality of the respiratory system

Trait	Hur ofta den förekommer
Lung adenocarcinoma	Ofta (30–79 %)
Abnormality of the respiratory system	Ibland (5–29 %)
Lung cancer	Sällan (1–4%)
Neoplasm of the larynx	Sällan (1–4%)

Abnormality of the immune system

Trait	Hur ofta den förekommer
Acne	Ofta (30–79 %)
Decreased immune function	Ofta (30–79 %)
Recurrent cutaneous fungal infections	Ibland (5–29 %)

Abnormal cellular phenotype

Trait	Hur ofta den förekommer
Decreased circulating antibody level	Alltid
Short telomere length	Alltid

Abnormality of prenatal development or birth

Trait	Hur ofta den förekommer
Choriocarcinoma	Sällan (1–4%)

Abnormality of the breast

Trait	Hur ofta den förekommer
Breast cancer	Ofta (30–79 %)

Abnormality of the ear

Trait	Hur ofta den förekommer
Dizziness	Ofta (30–79 %)

Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.

Varifrån informationen kommer

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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