Phenotypes associated with the disease Li-Fraumeni syndrome (ORPHA:524):
- Neoplasm (HP:0002664): An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:524)
- Breast carcinoma (HP:0003002): The presence of a carcinoma of the breast. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:524)
- Leukemia (HP:0001909): A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:524)
- Lymphoma (HP:0002665): A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:524)
- Osteosarcoma (HP:0002669): A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:524)
- Rhabdomyosarcoma (HP:0002859). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:524)
- Ependymoma (HP:0002888): The presence of an ependymoma of the central nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:524)
- Adrenocortical carcinoma (HP:0006744): A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:524)
- Neoplasm of the gastrointestinal tract (HP:0007378): A tumor (abnormal growth of tissue) of the gastrointestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:524)
- Astrocytoma (HP:0009592): Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:524)
- Stomach cancer (HP:0012126): A cancer arising in any part of the stomach. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:524)
- Glioblastoma multiforme (HP:0012174): A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:524)
- Central primitive neuroectodermal tumor (HP:0030070): A primitive neuroectodermal neoplasm that occurs in the central nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:524)
- Choroid plexus carcinoma (HP:0030392): Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:524)
- Neoplasm of the central nervous system (HP:0100006): A neoplasm of the central nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:524)
- Colorectal polyposis (HP:0200063): Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:524)
- Melanoma (HP:0002861): The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:524)
- Myelodysplasia (HP:0002863): Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:524)
- Medulloblastoma (HP:0002885): A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:524)
- Thyroid carcinoma (HP:0002890): The presence of a carcinoma of the thyroid gland. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:524)
- Neoplasm of the pancreas (HP:0002894): A tumor (abnormal growth of tissue) of the pancreas. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:524)
- Colon cancer (HP:0003003). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:524)
- Acute myeloid leukemia (HP:0004808): A form of leukemia characterized by overproduction of an early myeloid cell. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:524)
- Acute lymphoblastic leukemia (HP:0006721): A form of acute leukemia characterized by excess lympoblasts. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:524)
- Renal neoplasm (HP:0009726): The presence of a neoplasm of the kidney. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:524)
- Testicular neoplasm (HP:0010788): The presence of a neoplasm of the testis. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:524)
- Prostate cancer (HP:0012125): A cancer of the prostate. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:524)
- Hodgkin lymphoma (HP:0012189): A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:524)
- Neoplasm of head and neck (HP:0012288): A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:524)
- Non-Hodgkin lymphoma (HP:0012539): A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:524)
- Neoplasm of the lung (HP:0100526): Tumor of the lung. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:524)
- Neoplasm of the larynx (HP:0100605). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:524)
- Ovarian neoplasm (HP:0100615): A tumor (abnormal growth of tissue) of the ovary. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:524)
- Neoplasm of the rectum (HP:0100743). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:524)
- Choriocarcinoma (HP:0100768): A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:524)