familial adenomatous polyposis 2

Summary
Synonym
  • MUTYH-associated polyposis
  • MUTYH-related attenuated FAP
  • MUTYH-related attenuated familial adenomatous polyposis
  • MUTYH-related attenuated familial polyposis coli
Definition
A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34.
Super Class
autosomal recessive disease familial adenomatous polyposis
External Links
Disease Ontology
DOID:0080410
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
1048 CEACAM5 CEA cell adhesion molecule 5
4595 MUTYH mutY DNA glycosylase
57214 CEMIP cell migration inducing hyaluronidase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
70603 Mutyh mutY DNA glycosylase
Displaying 1 entry
Gene ID Gene Symbol Description Source
170841 Mutyh mutY DNA glycosylase
Related Glycoprotein
The Human Phenotype Ontology
Displaying all 7 entries
HPO ID HPO Term
HP:0007649 Congenital hypertrophy of retinal pigment epithelium
HP:0100896 Rectal polyposis
HP:0005227 Adenomatous colonic polyposis
HP:0200063 Colorectal polyposis
HP:0100245 Desmoid tumors
HP:0003003 Colon cancer
HP:0000007 Autosomal recessive inheritance
Displaying 1 entry
Gene ID Gene Symbol Description
4595 MUTYH mutY DNA glycosylase

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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: August 19, 2024