Lynch syndrome 1

Summary
Synonym
  • FCC1
  • HNPCC1
  • familial nonpolyposis colon cancer type 1
  • hereditary nonpolyposis colorectal cancer type 1
Definition
A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16.
Super Class
Lynch syndrome
Disease Ontology
DOID:0070271
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4436 MSH2 mutS homolog 2
The Human Phenotype Ontology
Displaying entries 21 - 30 of 62 in total
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
Displaying all 2 entries
Gene ID Gene Symbol Description
3845 KRAS KRAS proto-oncogene, GTPase
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024