Phenotypes associated with the disease Lynch syndrome 8 (OMIM:613244):
- Adenomatous colonic polyposis (HP:0005227): Presence of multiple adenomatous polyps in the colon. Evidence: PCS. Frequency: 1/10. (PMID:16951683)
- 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: 2/4. (PMID:16951683)
- Hereditary nonpolyposis colorectal carcinoma (HP:0006716). Evidence: PCS. (PMID:16951683)
- Colon cancer (HP:0003003). Evidence: PCS. Frequency: 2/10. (PMID:16951683)
- Late onset (HP:0003584): A type of adult onset with onset of symptoms after the age of 60 years. Evidence: PCS. Frequency: 1/4. (PMID:16951683)
- Late young adult onset (HP:0025710): Onset of disease at an age of greater than or equal to 25 to under 40 years. Evidence: PCS. Frequency: 1/4. (PMID:16951683)
- Endometrial carcinoma (HP:0012114): A carcinoma of the endometrium, the mucous lining of the uterus. Evidence: PCS. Frequency: 1/9. (PMID:16951683)
- 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:16951683)