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hereditary nonpolyposis colorectal cancer type 8
Summary
- Synonym
-
- HNPCC8
- Definition
- A Lynch syndrome that has_material_basis_in heterozygous deletion of the 3' part of the EPCAM gene and intergenic regions adjacent to the MSH2 gene on chromosome 2p21. This results in transcriptional read-through and silencing of MSH2 in tissues expressing EPCAM.
- Super Class
- Lynch syndrome chromosomal deletion syndrome
External Links
- Disease Ontology
- DOID:0070270
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012174 | Glioblastoma multiforme |
| HP:0012378 | Fatigue |
| HP:0100031 | Neoplasm of the thyroid gland |
| HP:0100571 | Cardiac diverticulum |
| HP:0100576 | Amaurosis fugax |
| HP:0100613 | Death in early adulthood |
| HP:0100615 | Ovarian neoplasm |
| HP:0100660 | Dyskinesia |
| HP:0100684 | Salivary gland neoplasm |
| HP:0100743 | Neoplasm of the rectum |
