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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:0002076 | Migraine |
| HP:0002167 | Abnormality of speech or vocalization |
| HP:0002239 | Gastrointestinal hemorrhage |
| HP:0002354 | Memory impairment |
| HP:0002376 | Developmental regression |
| HP:0002516 | Increased intracranial pressure |
| HP:0002671 | Basal cell carcinoma |
| HP:0002893 | Pituitary adenoma |
| HP:0002894 | Neoplasm of the pancreas |
| HP:0002896 | Neoplasm of the liver |
