Phenotypes associated with the disease tumor predisposition syndrome 2 (OMIM:619975):
- Adenomatous colonic polyposis (HP:0005227): Presence of multiple adenomatous polyps in the colon. Evidence: PCS. Frequency: 1/1. Onset: Middle age onset (HP:0003596). (PMID:31322271)
- Adenomatous colonic polyposis (HP:0005227): Presence of multiple adenomatous polyps in the colon. Evidence: PCS. Frequency: 2/3. (PMID:30049810)
- Adenomatous colonic polyposis (HP:0005227): Presence of multiple adenomatous polyps in the colon. Evidence: PCS. Frequency: 7/7. (PMID:35460607)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/7. (PMID:35460607)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 4/9. (PMID:31322271;PMID:35460607)
- Uveal melanoma (HP:0007716): A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid). Evidence: PCS. Frequency: 2/8. (PMID:35460607)
- Colon cancer (HP:0003003). Evidence: PCS. Frequency: 1/1. Onset: Middle age onset (HP:0003596). (PMID:31322271)
- Colon cancer (HP:0003003). Evidence: PCS. Frequency: 1/8. (PMID:35460607)
- Acute myeloid leukemia (HP:0004808): A form of leukemia characterized by overproduction of an early myeloid cell. Evidence: PCS. Frequency: 3/3. Onset: Young adult onset (HP:0011462). (PMID:30049810)
- Acute myeloid leukemia (HP:0004808): A form of leukemia characterized by overproduction of an early myeloid cell. Evidence: PCS. Frequency: 4/8. (PMID:35460607)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 7/10. (PMID:30049810;PMID:35460607)
- Schwannoma (HP:0100008): A benign nerve sheath tumor composed of Schwann cells. Evidence: PCS. Frequency: 1/8. (PMID:35460607)
- Juvenile type ovarian granulosa cell tumor (HP:0031919): Juvenile granulosa cell ovarian tumor (JGCOT) is a rare sex cord stromal tumor, occurring most frequently in premenarchal girls or young women. In contrast to adult granulosa cell tumor, JGCOT has a high mitotic index and more aggressive tumor growth. Microscopically it is seen as diffuse and regularly distributed neoplastic cells with a wide cytoplasm and pleomorphic hyperchromatic nucleus. Follicle formation, in various sizes and shapes, is important in JGCOT. Call-Exner bodies are infrequently seen in JGCOT in contrast to the adult type. Evidence: PCS. Frequency: 1/4. (PMID:35460607)
- Meningioma (HP:0002858): The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater. Evidence: PCS. Frequency: 1/8. (PMID:35460607)
- Ductal carcinoma in situ (HP:0030075): Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer. Evidence: PCS. Frequency: 1/4. (PMID:35460607)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:31322271)