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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.
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Abnormality of the nervous system
| Trait | Hoe vaak het voorkomt |
|---|---|
| Choroid plexus carcinoma | Altijd |
| Global developmental delay | Altijd |
| Intellectual disability | Altijd |
| Abnormal shape of nervous system | Heel vaak (80–99%) |
| Pins and needles feeling | Heel vaak (80–99%) |
| Too much cerebrospinal fluid in the brain | Heel vaak (80–99%) |
| Anxiety | Vaak (30–79%) |
| Behavioral abnormality | Vaak (30–79%) |
| Can't control feelings | Vaak (30–79%) |
| Difficulty staying or falling asleep | Vaak (30–79%) |
| Grand mal seizures | Vaak (30–79%) |
| Headache | Vaak (30–79%) |
| Irritability | Vaak (30–79%) |
| Migraine | Vaak (30–79%) |
| Panic attack | Vaak (30–79%) |
| Astrocytoma | Soms (5–29%) |
| Cognitive impairment | Soms (5–29%) |
| Depression | Soms (5–29%) |
| Ependymoma | Soms (5–29%) |
| Epilepsy | Soms (5–29%) |
| Glioblastoma multiforme | Soms (5–29%) |
| Memory impairment | Soms (5–29%) |
| Paralysis or weakness of one side of body | Soms (5–29%) |
| Psychotic episodes | Soms (5–29%) |
| Suicidal ideation | Soms (5–29%) |
| Tumors of the central nervous system | Soms (5–29%) |
| Dementia | Zelden (1–4%) |
| Medulloblastoma | Zelden (1–4%) |
| Paranoia | Zelden (1–4%) |
| Psychosis | Zelden (1–4%) |
Abnormality of blood and blood-forming tissues
Abnormality of the digestive system
| Trait | Hoe vaak het voorkomt |
|---|---|
| Pancreatic adenocarcinoma | Altijd |
| Abdominal pain | Heel vaak (80–99%) |
| Anorexia | Heel vaak (80–99%) |
| Inability to properly digest food due to lack of pancreatic digestive enzymes | Heel vaak (80–99%) |
| Poor appetite | Heel vaak (80–99%) |
| Primary peritoneal carcinoma | Heel vaak (80–99%) |
| Extrahepatic cholestasis | Vaak (30–79%) |
| Functional intestinal obstruction | Vaak (30–79%) |
| Intestinal pseudo-obstruction | Vaak (30–79%) |
| Jaundice | Vaak (30–79%) |
| Cancer of the pancreas | Soms (5–29%) |
| Colon cancer | Soms (5–29%) |
| Colorectal polyposis | Soms (5–29%) |
| Gastrointestinal tract tumor | Soms (5–29%) |
| Intermittent diarrhea | Soms (5–29%) |
| Liver cancer | Soms (5–29%) |
| Nausea and vomiting | Soms (5–29%) |
| Peritoneal abscess | Soms (5–29%) |
| Stomach cancer | Soms (5–29%) |
| Rectal tumor | Zelden (1–4%) |
| Hepatocellular carcinoma | Niet vastgelegd |
| Hereditary nonpolyposis colorectal carcinoma | Niet vastgelegd |
| Micronodular cirrhosis | Niet vastgelegd |
| Nausea | Niet vastgelegd |
| Stomach tumor | Niet vastgelegd |
| Subacute progressive viral hepatitis | Niet vastgelegd |
| Vomiting | Niet vastgelegd |
Abnormality of the genitourinary system
| Trait | Hoe vaak het voorkomt |
|---|---|
| Abnormal fallopian tube morphology | Heel vaak (80–99%) |
| Ovarian cancer | Heel vaak (80–99%) |
| Abnormal absence of menstruation | Vaak (30–79%) |
| Abnormality of reproductive system physiology | Vaak (30–79%) |
| Testicular degeneration | Vaak (30–79%) |
| Abnormal libido | Soms (5–29%) |
| Light or infrequent menstrual periods | Soms (5–29%) |
| Ovarian carcinoma | Soms (5–29%) |
| Previous menstrual periods stop | Soms (5–29%) |
| Prostate cancer | Soms (5–29%) |
| Kidney cancer | Zelden (1–4%) |
| Testicular cancer | Zelden (1–4%) |
| Cancer starting in small tubes in kidneys | Niet vastgelegd |
| Nephroblastoma | Niet vastgelegd |
| Prostate neoplasm | Niet vastgelegd |
| Transitional cell carcinoma of the bladder | Niet vastgelegd |
| Uterine leiomyosarcoma | Niet vastgelegd |
Abnormality of the endocrine system
| Trait | Hoe vaak het voorkomt |
|---|---|
| Adrenocortical carcinoma | Altijd |
| Decreased activity of gonads | Altijd |
| Increased circulating cortisol level | Heel vaak (80–99%) |
| Paradoxical increased cortisol secretion on dexamethasone suppression test | Heel vaak (80–99%) |
| Pituitary corticotropic cell adenoma | Heel vaak (80–99%) |
| Abnormal circulating dehydroepiandrosterone concentration | Vaak (30–79%) |
| Adrenocorticotropic hormone deficiency | Vaak (30–79%) |
| Elevated plasma aldosterone | Vaak (30–79%) |
| Elevated serum 11-deoxycortisol | Vaak (30–79%) |
| Enlarged adrenal glands | Vaak (30–79%) |
| Increased circulating ACTH level | Vaak (30–79%) |
| Increased circulating androgen concentration | Vaak (30–79%) |
| Increased circulating androstenedione concentration | Vaak (30–79%) |
| Increased serum estradiol | Vaak (30–79%) |
| Thyroid carcinoma | Zelden (1–4%) |
Abnormality of the integument
| Trait | Hoe vaak het voorkomt |
|---|---|
| Choroid plexus papilloma | Altijd |
| Reticular hyperpigmentation | Altijd |
| Buffalo hump | Vaak (30–79%) |
| Excessive hair growth | Vaak (30–79%) |
| Excessive hairiness | Vaak (30–79%) |
| Excessive sweating | Vaak (30–79%) |
| Patchy darkened skin | Vaak (30–79%) |
| Plethora | Vaak (30–79%) |
| Poor wound healing | Vaak (30–79%) |
| Stretch marks | Vaak (30–79%) |
| Thin skin | Vaak (30–79%) |
| Flushing | Soms (5–29%) |
| Open skin sore | Soms (5–29%) |
| Basal cell carcinoma | Niet vastgelegd |
Abnormality of the musculoskeletal system
| Trait | Hoe vaak het voorkomt |
|---|---|
| Bone cell cancer | Altijd |
| Back pain | Heel vaak (80–99%) |
| Breakdown of bone | Heel vaak (80–99%) |
| Delayed bone maturation | Vaak (30–79%) |
| Fatiguable weakness of proximal limb muscles | Vaak (30–79%) |
| Muscle weakness | Vaak (30–79%) |
| Osteoporosis | Vaak (30–79%) |
| Wasting of muscles near the body | Vaak (30–79%) |
| Compression fracture of a vertebral body | Soms (5–29%) |
| Rhabdomyosarcoma | Soms (5–29%) |
| Spasticity and rigidity of muscles | Soms (5–29%) |
| Death of bone due to decreased blood supply | Zelden (1–4%) |
| Spontaneous fracture | Zelden (1–4%) |
Laboratory abnormality
| Trait | Hoe vaak het voorkomt |
|---|---|
| High urine cortisol level | Heel vaak (80–99%) |
| Abnormal circulating lactate dehydrogenase concentration | Vaak (30–79%) |
| Diabetes mellitus | Vaak (30–79%) |
| Elevated alkaline phosphatase | Vaak (30–79%) |
| Impaired glucose tolerance | Vaak (30–79%) |
| Increased circulating lactate dehydrogenase concentration | Vaak (30–79%) |
| Joint swelling | Vaak (30–79%) |
| Laboratory abnormality | Vaak (30–79%) |
| Low blood potassium levels | Vaak (30–79%) |
| High liver enzymes | Soms (5–29%) |
| Pee issues | Soms (5–29%) |
| Fever | Zelden (1–4%) |
| Increased level of L-fucose in urine | Niet vastgelegd |
Abnormality of the cardiovascular system
| Trait | Hoe vaak het voorkomt |
|---|---|
| Abnormality of the cerebral blood vessels | Heel vaak (80–99%) |
| Heart attack | Heel vaak (80–99%) |
| Abnormality of the cardiovascular system | Vaak (30–79%) |
| Capillary fragility | Vaak (30–79%) |
| High blood pressure | Vaak (30–79%) |
| Increased spleen size | Vaak (30–79%) |
| Palpitations | Vaak (30–79%) |
| Swollen lymph nodes | Vaak (30–79%) |
| Enlarged liver and spleen | Soms (5–29%) |
| Livedo reticularis | Soms (5–29%) |
| Mini stroke | Soms (5–29%) |
| Stroke | Soms (5–29%) |
Abnormality of head or neck
| Trait | Hoe vaak het voorkomt |
|---|---|
| Abnormally small head | Altijd |
| Dark color of gums | Vaak (30–79%) |
| Moon face | Vaak (30–79%) |
| Big sella turcica | Soms (5–29%) |
| Sparse scalp hair | Soms (5–29%) |
| Neoplasia of the nasopharynx | Niet vastgelegd |
Abnormality of the eye
| Trait | Hoe vaak het voorkomt |
|---|---|
| Amaurosis fugax | Heel vaak (80–99%) |
| Visual impairment | Soms (5–29%) |
| Optic nerve compression | Zelden (1–4%) |
| Partial loss of field of vision | Zelden (1–4%) |
| Papilledema | Niet vastgelegd |
| Retina tumor | Niet vastgelegd |
Growth abnormality
| Trait | Hoe vaak het voorkomt |
|---|---|
| Growth delay | Altijd |
| Short stature | Altijd |
| Weight loss | Heel vaak (80–99%) |
| Abdominal obesity | Vaak (30–79%) |
| Increased body weight | Vaak (30–79%) |
| Truncal obesity | Vaak (30–79%) |
Abnormal tissue mass
| Trait | Hoe vaak het voorkomt |
|---|---|
| Abnormal tissue mass | Heel vaak (80–99%) |
| Cancer of skin pigment cells | Soms (5–29%) |
| Central primitive neuroectodermal tumor | Soms (5–29%) |
| Head and neck tumor | Zelden (1–4%) |
| Soft tissue sarcoma | Niet vastgelegd |
Constitutional symptom
| Trait | Hoe vaak het voorkomt |
|---|---|
| Chest pain | Heel vaak (80–99%) |
| Chronic fatigue | Heel vaak (80–99%) |
| Fatigue | Heel vaak (80–99%) |
| Pain | Vaak (30–79%) |
| Erythromelalgia | Soms (5–29%) |
Abnormality of limbs
| Trait | Hoe vaak het voorkomt |
|---|---|
| Abnormality of the wide portion of the femoral bone | Heel vaak (80–99%) |
| Abnormality of the wide portion of a long bone | Vaak (30–79%) |
| Abnormality of the wide portion of shankbone | Vaak (30–79%) |
| Fluid accumulation in lower limbs | Zelden (1–4%) |
Abnormality of the respiratory system
| Trait | Hoe vaak het voorkomt |
|---|---|
| Lung adenocarcinoma | Vaak (30–79%) |
| Abnormality of the respiratory system | Soms (5–29%) |
| Lung cancer | Zelden (1–4%) |
| Neoplasm of the larynx | Zelden (1–4%) |
Abnormality of the immune system
| Trait | Hoe vaak het voorkomt |
|---|---|
| Acne | Vaak (30–79%) |
| Decreased immune function | Vaak (30–79%) |
| Recurrent cutaneous fungal infections | Soms (5–29%) |
Abnormal cellular phenotype
| Trait | Hoe vaak het voorkomt |
|---|---|
| Decreased circulating antibody level | Altijd |
| Short telomere length | Altijd |
Abnormality of prenatal development or birth
| Trait | Hoe vaak het voorkomt |
|---|---|
| Choriocarcinoma | Zelden (1–4%) |
Abnormality of the breast
| Trait | Hoe vaak het voorkomt |
|---|---|
| Breast cancer | Vaak (30–79%) |
Abnormality of the ear
| Trait | Hoe vaak het voorkomt |
|---|---|
| Dizziness | Vaak (30–79%) |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Waar dit vandaan komt
- 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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