Phenotypes associated with the disease familial adenomatous polyposis 4 (OMIM:617100):
- Adenomatous colonic polyposis (HP:0005227): Presence of multiple adenomatous polyps in the colon. Evidence: PCS. Frequency: 4/4. (PMID:27476653)
- Uterine leiomyoma (HP:0000131): The presence of a leiomyoma of the uterus. Evidence: PCS. Frequency: 2/4. (PMID:27476653)
- 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: 1/4. (PMID:27476653)
- 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: PCS. Frequency: 1/4. (PMID:27476653)
- Duodenal polyposis (HP:0004783): Presence of multiple polyps in the duodenum. Evidence: PCS. Frequency: 1/4. (PMID:27476653)
- Gastric adenocarcinoma (HP:0033770): An adenocarcinoma arising from the stomach glandular epithelium. Gastric carcinoma often produces no specific symptoms when it is superficial and potentially surgically curable, although up to 50% of patients may have nonspecific gastrointestinal complaints such as dyspepsia. Evidence: PCS. Frequency: 1/4. (PMID:27476653)
- Breast intraductal papilloma (HP:6000102): Intraductal papilloma is a benign tumor found within breast ducts. The abnormal proliferation of ductal epithelial cells causes growth. A solitary intraductal papilloma is usually found centrally posterior to the nipple affecting the central duct. Multiple intraductal papillomas are located peripherally, found in any breast quadrant affecting the peripheral ducts. Evidence: PCS. Frequency: 2/3. (PMID:27476653)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 3/4. (PMID:27476653)
- Renal cyst (HP:0000107): A fluid filled sac in the kidney. Evidence: PCS. Frequency: 1/4. (PMID:27476653)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:27476653)
- Thyroid adenoma (HP:0000854): The presence of a adenoma of the thyroid gland. Evidence: PCS. Frequency: 1/4. (PMID:27476653)
- Ovarian cyst (HP:0000138): The presence of one or more cysts of the ovary. Evidence: PCS. Frequency: 1/4. (PMID:27476653)