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 21 - 24 of 24 in total
Gene ID Gene Symbol Description Source
6652 SORD sorbitol dehydrogenase
8807 IL18RAP interleukin 18 receptor accessory protein
9469 CHST3 carbohydrate sulfotransferase 3
9993 DGCR2 DiGeorge syndrome critical region gene 2

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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