Atlas이런 분들을 위해과학적 근거제품연구 성과
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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.
Atlas이런 분들을 위해과학적 근거제품연구 성과
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Atlas이런 분들을 위해과학적 근거제품연구 성과
로그인질문하기유전체를 시퀀싱하세요↗
Abnormality of the nervous system
| Trait | 나타나는 빈도 |
|---|---|
| Choroid plexus carcinoma | 항상 |
| Global developmental delay | 항상 |
| Intellectual disability | 항상 |
| Abnormal shape of nervous system | 매우 자주 (80–99%) |
| Pins and needles feeling | 매우 자주 (80–99%) |
| Too much cerebrospinal fluid in the brain | 매우 자주 (80–99%) |
| Anxiety | 자주 (30–79%) |
| Behavioral abnormality | 자주 (30–79%) |
| Can't control feelings | 자주 (30–79%) |
| Difficulty staying or falling asleep | 자주 (30–79%) |
| Grand mal seizures | 자주 (30–79%) |
| Headache | 자주 (30–79%) |
| Irritability | 자주 (30–79%) |
| Migraine | 자주 (30–79%) |
| Panic attack | 자주 (30–79%) |
| Astrocytoma | 가끔 (5–29%) |
| Cognitive impairment | 가끔 (5–29%) |
| Depression | 가끔 (5–29%) |
| Ependymoma | 가끔 (5–29%) |
| Epilepsy | 가끔 (5–29%) |
| Glioblastoma multiforme | 가끔 (5–29%) |
| Memory impairment | 가끔 (5–29%) |
| Paralysis or weakness of one side of body | 가끔 (5–29%) |
| Psychotic episodes | 가끔 (5–29%) |
| Suicidal ideation | 가끔 (5–29%) |
| Tumors of the central nervous system | 가끔 (5–29%) |
| Dementia | 드물게 (1–4%) |
| Medulloblastoma | 드물게 (1–4%) |
| Paranoia | 드물게 (1–4%) |
| Psychosis | 드물게 (1–4%) |
Abnormality of blood and blood-forming tissues
| Trait | 나타나는 빈도 |
|---|---|
| Erythroid hypoplasia | 항상 |
| Low number of red blood cells or hemoglobin | 항상 |
| Pure red cell aplasia | 항상 |
| Abnormal shape of platelets | 매우 자주 (80–99%) |
| Blood clot in artery | 매우 자주 (80–99%) |
| Blood clot in vein | 매우 자주 (80–99%) |
| Bone marrow disease | 매우 자주 (80–99%) |
| Increased megakaryocyte count | 매우 자주 (80–99%) |
| Increased number of platelets in blood | 매우 자주 (80–99%) |
| Megakaryocyte nucleus hyperlobulation | 매우 자주 (80–99%) |
| Platelet abnormalities | 매우 자주 (80–99%) |
| Prolonged bleeding time | 매우 자주 (80–99%) |
| Bleeding tendency | 자주 (30–79%) |
| Bruising susceptibility | 자주 (30–79%) |
| Decreased blood lymphocyte number | 자주 (30–79%) |
| Decreased total eosinophil count | 자주 (30–79%) |
| Elevated white blood count | 자주 (30–79%) |
| Acute blood cancer | 가끔 (5–29%) |
| Blood cancer | 가끔 (5–29%) |
| Blood clot in liver vein | 가끔 (5–29%) |
| Blood spots | 가끔 (5–29%) |
| Cancer of lymphatic system | 가끔 (5–29%) |
| Ecchymosis | 가끔 (5–29%) |
| Myelodysplasia | 가끔 (5–29%) |
| Myelofibrosis | 가끔 (5–29%) |
| Acute lymphoblastic leukemia | 드물게 (1–4%) |
| Acute myeloid leukemia | 드물게 (1–4%) |
| Hodgkin lymphoma | 드물게 (1–4%) |
| Non-Hodgkin lymphoma | 드물게 (1–4%) |
Abnormality of the digestive system
| Trait | 나타나는 빈도 |
|---|---|
| Pancreatic adenocarcinoma | 항상 |
| Abdominal pain | 매우 자주 (80–99%) |
| Anorexia | 매우 자주 (80–99%) |
| Inability to properly digest food due to lack of pancreatic digestive enzymes | 매우 자주 (80–99%) |
| Poor appetite | 매우 자주 (80–99%) |
| Primary peritoneal carcinoma | 매우 자주 (80–99%) |
| Extrahepatic cholestasis | 자주 (30–79%) |
| Functional intestinal obstruction | 자주 (30–79%) |
| Intestinal pseudo-obstruction | 자주 (30–79%) |
| Jaundice | 자주 (30–79%) |
| Cancer of the pancreas | 가끔 (5–29%) |
| Colon cancer | 가끔 (5–29%) |
| Colorectal polyposis | 가끔 (5–29%) |
| Gastrointestinal tract tumor | 가끔 (5–29%) |
| Intermittent diarrhea | 가끔 (5–29%) |
| Liver cancer | 가끔 (5–29%) |
| Nausea and vomiting | 가끔 (5–29%) |
| Peritoneal abscess | 가끔 (5–29%) |
| Stomach cancer | 가끔 (5–29%) |
| Rectal tumor | 드물게 (1–4%) |
| Hepatocellular carcinoma | 기록되지 않음 |
| Hereditary nonpolyposis colorectal carcinoma | 기록되지 않음 |
| Micronodular cirrhosis | 기록되지 않음 |
| Nausea | 기록되지 않음 |
| Stomach tumor | 기록되지 않음 |
| Subacute progressive viral hepatitis | 기록되지 않음 |
| Vomiting | 기록되지 않음 |
Abnormality of the genitourinary system
| Trait | 나타나는 빈도 |
|---|---|
| Abnormal fallopian tube morphology | 매우 자주 (80–99%) |
| Ovarian cancer | 매우 자주 (80–99%) |
| Abnormal absence of menstruation | 자주 (30–79%) |
| Abnormality of reproductive system physiology | 자주 (30–79%) |
| Testicular degeneration | 자주 (30–79%) |
| Abnormal libido | 가끔 (5–29%) |
| Light or infrequent menstrual periods | 가끔 (5–29%) |
| Ovarian carcinoma | 가끔 (5–29%) |
| Previous menstrual periods stop | 가끔 (5–29%) |
| Prostate cancer | 가끔 (5–29%) |
| Kidney cancer | 드물게 (1–4%) |
| Testicular cancer | 드물게 (1–4%) |
| Cancer starting in small tubes in kidneys | 기록되지 않음 |
| Nephroblastoma | 기록되지 않음 |
| Prostate neoplasm | 기록되지 않음 |
| Transitional cell carcinoma of the bladder | 기록되지 않음 |
| Uterine leiomyosarcoma | 기록되지 않음 |
Abnormality of the endocrine system
| Trait | 나타나는 빈도 |
|---|---|
| Adrenocortical carcinoma | 항상 |
| Decreased activity of gonads | 항상 |
| Increased circulating cortisol level | 매우 자주 (80–99%) |
| Paradoxical increased cortisol secretion on dexamethasone suppression test | 매우 자주 (80–99%) |
| Pituitary corticotropic cell adenoma | 매우 자주 (80–99%) |
| Abnormal circulating dehydroepiandrosterone concentration | 자주 (30–79%) |
| Adrenocorticotropic hormone deficiency | 자주 (30–79%) |
| Elevated plasma aldosterone | 자주 (30–79%) |
| Elevated serum 11-deoxycortisol | 자주 (30–79%) |
| Enlarged adrenal glands | 자주 (30–79%) |
| Increased circulating ACTH level | 자주 (30–79%) |
| Increased circulating androgen concentration | 자주 (30–79%) |
| Increased circulating androstenedione concentration | 자주 (30–79%) |
| Increased serum estradiol | 자주 (30–79%) |
| Thyroid carcinoma | 드물게 (1–4%) |
Abnormality of the integument
| Trait | 나타나는 빈도 |
|---|---|
| Choroid plexus papilloma | 항상 |
| Reticular hyperpigmentation | 항상 |
| Buffalo hump | 자주 (30–79%) |
| Excessive hair growth | 자주 (30–79%) |
| Excessive hairiness | 자주 (30–79%) |
| Excessive sweating | 자주 (30–79%) |
| Patchy darkened skin | 자주 (30–79%) |
| Plethora | 자주 (30–79%) |
| Poor wound healing | 자주 (30–79%) |
| Stretch marks | 자주 (30–79%) |
| Thin skin | 자주 (30–79%) |
| Flushing | 가끔 (5–29%) |
| Open skin sore | 가끔 (5–29%) |
| Basal cell carcinoma | 기록되지 않음 |
Abnormality of the musculoskeletal system
| Trait | 나타나는 빈도 |
|---|---|
| Bone cell cancer | 항상 |
| Back pain | 매우 자주 (80–99%) |
| Breakdown of bone | 매우 자주 (80–99%) |
| Delayed bone maturation | 자주 (30–79%) |
| Fatiguable weakness of proximal limb muscles | 자주 (30–79%) |
| Muscle weakness | 자주 (30–79%) |
| Osteoporosis | 자주 (30–79%) |
| Wasting of muscles near the body | 자주 (30–79%) |
| Compression fracture of a vertebral body | 가끔 (5–29%) |
| Rhabdomyosarcoma | 가끔 (5–29%) |
| Spasticity and rigidity of muscles | 가끔 (5–29%) |
| Death of bone due to decreased blood supply | 드물게 (1–4%) |
| Spontaneous fracture | 드물게 (1–4%) |
Laboratory abnormality
| Trait | 나타나는 빈도 |
|---|---|
| High urine cortisol level | 매우 자주 (80–99%) |
| Abnormal circulating lactate dehydrogenase concentration | 자주 (30–79%) |
| Diabetes mellitus | 자주 (30–79%) |
| Elevated alkaline phosphatase | 자주 (30–79%) |
| Impaired glucose tolerance | 자주 (30–79%) |
| Increased circulating lactate dehydrogenase concentration | 자주 (30–79%) |
| Joint swelling | 자주 (30–79%) |
| Laboratory abnormality | 자주 (30–79%) |
| Low blood potassium levels | 자주 (30–79%) |
| High liver enzymes | 가끔 (5–29%) |
| Pee issues | 가끔 (5–29%) |
| Fever | 드물게 (1–4%) |
| Increased level of L-fucose in urine | 기록되지 않음 |
Abnormality of the cardiovascular system
| Trait | 나타나는 빈도 |
|---|---|
| Abnormality of the cerebral blood vessels | 매우 자주 (80–99%) |
| Heart attack | 매우 자주 (80–99%) |
| Abnormality of the cardiovascular system | 자주 (30–79%) |
| Capillary fragility | 자주 (30–79%) |
| High blood pressure | 자주 (30–79%) |
| Increased spleen size | 자주 (30–79%) |
| Palpitations | 자주 (30–79%) |
| Swollen lymph nodes | 자주 (30–79%) |
| Enlarged liver and spleen | 가끔 (5–29%) |
| Livedo reticularis | 가끔 (5–29%) |
| Mini stroke | 가끔 (5–29%) |
| Stroke | 가끔 (5–29%) |
Abnormality of head or neck
| Trait | 나타나는 빈도 |
|---|---|
| Abnormally small head | 항상 |
| Dark color of gums | 자주 (30–79%) |
| Moon face | 자주 (30–79%) |
| Big sella turcica | 가끔 (5–29%) |
| Sparse scalp hair | 가끔 (5–29%) |
| Neoplasia of the nasopharynx | 기록되지 않음 |
Abnormality of the eye
| Trait | 나타나는 빈도 |
|---|---|
| Amaurosis fugax | 매우 자주 (80–99%) |
| Visual impairment | 가끔 (5–29%) |
| Optic nerve compression | 드물게 (1–4%) |
| Partial loss of field of vision | 드물게 (1–4%) |
| Papilledema | 기록되지 않음 |
| Retina tumor | 기록되지 않음 |
Growth abnormality
| Trait | 나타나는 빈도 |
|---|---|
| Growth delay | 항상 |
| Short stature | 항상 |
| Weight loss | 매우 자주 (80–99%) |
| Abdominal obesity | 자주 (30–79%) |
| Increased body weight | 자주 (30–79%) |
| Truncal obesity | 자주 (30–79%) |
Abnormal tissue mass
| Trait | 나타나는 빈도 |
|---|---|
| Abnormal tissue mass | 매우 자주 (80–99%) |
| Cancer of skin pigment cells | 가끔 (5–29%) |
| Central primitive neuroectodermal tumor | 가끔 (5–29%) |
| Head and neck tumor | 드물게 (1–4%) |
| Soft tissue sarcoma | 기록되지 않음 |
Constitutional symptom
| Trait | 나타나는 빈도 |
|---|---|
| Chest pain | 매우 자주 (80–99%) |
| Chronic fatigue | 매우 자주 (80–99%) |
| Fatigue | 매우 자주 (80–99%) |
| Pain | 자주 (30–79%) |
| Erythromelalgia | 가끔 (5–29%) |
Abnormality of limbs
| Trait | 나타나는 빈도 |
|---|---|
| Abnormality of the wide portion of the femoral bone | 매우 자주 (80–99%) |
| Abnormality of the wide portion of a long bone | 자주 (30–79%) |
| Abnormality of the wide portion of shankbone | 자주 (30–79%) |
| Fluid accumulation in lower limbs | 드물게 (1–4%) |
Abnormality of the respiratory system
| Trait | 나타나는 빈도 |
|---|---|
| Lung adenocarcinoma | 자주 (30–79%) |
| Abnormality of the respiratory system | 가끔 (5–29%) |
| Lung cancer | 드물게 (1–4%) |
| Neoplasm of the larynx | 드물게 (1–4%) |
Abnormality of the immune system
| Trait | 나타나는 빈도 |
|---|---|
| Acne | 자주 (30–79%) |
| Decreased immune function | 자주 (30–79%) |
| Recurrent cutaneous fungal infections | 가끔 (5–29%) |
Abnormal cellular phenotype
| Trait | 나타나는 빈도 |
|---|---|
| Decreased circulating antibody level | 항상 |
| Short telomere length | 항상 |
Abnormality of prenatal development or birth
| Trait | 나타나는 빈도 |
|---|---|
| Choriocarcinoma | 드물게 (1–4%) |
Abnormality of the breast
| Trait | 나타나는 빈도 |
|---|---|
| Breast cancer | 자주 (30–79%) |
Abnormality of the ear
| Trait | 나타나는 빈도 |
|---|---|
| Dizziness | 자주 (30–79%) |
Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.
출처
- 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.
Atlas이런 분들을 위해과학적 근거제품연구 성과
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