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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:0003002 | Breast carcinoma |
| HP:0003003 | Colon cancer |
| HP:0003006 | Neuroblastoma |
| HP:0003401 | Paresthesia |
| HP:0004374 | Hemiplegia/hemiparesis |
| HP:0004377 | Hematological neoplasm |
| HP:0006725 | Pancreatic adenocarcinoma |
| HP:0006753 | Neoplasm of the stomach |
| HP:0006758 | Malignant genitourinary tract tumor |
| HP:0007018 | Attention deficit hyperactivity disorder |
