Cowden syndrome

Summary
Synonym
  • Cowden disease
  • Lhermitte-Duclos disease
  • dysplastic Gangliocytoma of Cerebellum
Definition
A PTEN hamartoma tumor syndrome that is characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium.
Super Class
PTEN hamartoma tumor syndrome
External Links
Disease Ontology
DOID:6457
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 24 in total
Gene ID Gene Symbol Description Source
38 ACAT1 acetyl-CoA acetyltransferase 1
176 ACAN aggrecan
414 ARSD arylsulfatase D
1298 COL9A2 collagen type IX alpha 2 chain
1583 CYP11A1 cytochrome P450 family 11 subfamily A member 1
1636 ACE angiotensin I converting enzyme
2876 GPX1 glutathione peroxidase 1
4153 MBL2 mannose binding lectin 2
4595 MUTYH mutY DNA glycosylase
4680 CEACAM6 CEA cell adhesion molecule 6

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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