- 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: Very frequent (HP:0040281). (ORPHA:220460)
- Colon cancer (HP:0003003). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:220460)
- Multiple gastric polyps (HP:0004394). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:220460)
- Duodenal polyposis (HP:0004783): Presence of multiple polyps in the duodenum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:220460)
- Adenomatous colonic polyposis (HP:0005227): Presence of multiple adenomatous polyps in the colon. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:220460)
- Neoplasm of the stomach (HP:0006753): A tumor (abnormal growth of tissue) of the stomach. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:220460)
- Large intestinal polyposis (HP:0030255): The presence of multiple polyps in the large intestine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:220460)
- Rectal polyposis (HP:0100896): The presence of multiple rectal hyperplastic/adenomatous polyps. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:220460)
- Uterine leiomyoma (HP:0000131): The presence of a leiomyoma of the uterus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:220460)
- Thyroid adenoma (HP:0000854): The presence of a adenoma of the thyroid gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:220460)
- Multiple renal cysts (HP:0005562): The presence of many cysts in the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:220460)
- 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:220460)
- Fibroma (HP:0010614): Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term "fibroblastic" or "fibromatous" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:220460)
- Papilloma (HP:0012740): A tumor of the skin or mucous membrane with finger-like projections. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:220460)
- Adenocarcinoma of the colon (HP:0040276). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:220460)
- Gastrointestinal carcinoma (HP:0002672). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:220460)
- Neoplasm of the pancreas (HP:0002894): A tumor (abnormal growth of tissue) of the pancreas. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:220460)
- Papillary thyroid carcinoma (HP:0002895): The presence of a papillary adenocarcinoma of the thyroid gland. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:220460)
- Breast carcinoma (HP:0003002): The presence of a carcinoma of the breast. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:220460)
- 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: Very rare (HP:0040284). (ORPHA:220460)
- Adrenocortical adenoma (HP:0008256): Adrenocortical adenomas are benign tumors of the adrenal cortex. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:220460)
- Pilomatrixoma (HP:0030434): Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:220460)
These phenotypes are associated with the disease Attenuated familial adenomatous polyposis (ORPHA:220460).
The following phenotypes are NOT associated with this disease:
- Congenital hypertrophy of retinal pigment epithelium (HP:0007649): Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium. It can be solitary, clustered or multifocal, uni- or bilateral. Evidence: TAS. (ORPHA:220460)