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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

D006223

UMLS

NCI Thesaurus

C3076
C8419

ORDO

201

OMIM

PS158350

GARD

6202

MGI genotype (from TogoID)

Related Genes

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

Related Glycoprotein

Displaying entries **1 - 10** of 20 in total

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UniProt ID	Protein Name	Source
O00329	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform	DisGeNET DisGeNET DisGeNET
O00767	Stearoyl-CoA desaturase	DisGeNET
O14521	Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial	DisGeNET
O95256	Interleukin-18 receptor accessory protein	DisGeNET
P07203	Glutathione peroxidase 1	DisGeNET
P11226	Mannose-binding protein C	DisGeNET
P12821	Angiotensin-converting enzyme	DisGeNET
P16112	Aggrecan core protein	DisGeNET
P18827	Syndecan-1	DisGeNET
P21912	Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial	DisGeNET