Phenotypes associated with the disease Hereditary mixed polyposis syndrome (ORPHA:157794):
- Abnormal bleeding (HP:0001892): An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:157794)
- Hematochezia (HP:0002573): The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:157794)
- Hyperplastic colonic polyposis (HP:0012183): Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:157794)
- Colon cancer (HP:0003003). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157794)
- Adenomatous colonic polyposis (HP:0005227): Presence of multiple adenomatous polyps in the colon. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157794)
- Refractory anemia (HP:0005505). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157794)
- Neoplasm of the gastrointestinal tract (HP:0007378): A tumor (abnormal growth of tissue) of the gastrointestinal tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157794)
- Juvenile colonic polyposis (HP:0012198): The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157794)
- Rectal polyposis (HP:0100896): The presence of multiple rectal hyperplastic/adenomatous polyps. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157794)
- 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: Frequent (HP:0040282). (ORPHA:157794)
- Intussusception (HP:0002576): An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157794)
- Adenocarcinoma of the colon (HP:0040276). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157794)
- Neoplasm of the rectum (HP:0100743). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157794)
- Thyroid carcinoma (HP:0002890): The presence of a carcinoma of the thyroid gland. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:157794)
- Duodenal adenocarcinoma (HP:0006771): A malignant epithelial tumor with a glandular organization that originates in the duodenum. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:157794)
- Endometrial carcinoma (HP:0012114): A carcinoma of the endometrium, the mucous lining of the uterus. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:157794)
- Prostate cancer (HP:0012125): A cancer of the prostate. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:157794)
- Gastrointestinal desmoid tumor (HP:0100245): Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:157794)