Details of Disease | DrugMAP

General Information of Disease (ID: DIS8N2DI)

Disease Name	Cowden syndrome 5
Synonyms	CWS5; Cowden disease caused by mutation in PIK3CA; PIK3CA Cowden disease; Cowden syndrome type 5; Cowden syndrome 5
Definition	Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA gene.
Disease Hierarchy	DISMYKCE: Cowden disease DIS8N2DI: Cowden syndrome 5
Disease Identifiers	MONDO ID MONDO_0014047 UMLS CUI C3554518 OMIM ID 615108 MedGen ID 767432

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PIK3CA	TTEUNMR	Limited	Autosomal dominant	[1]
PIK3CA	TTEUNMR	Limited	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PIK3CA	OTTOMI8J	Limited	Autosomal dominant	[1]
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References

1	Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. Am J Hum Genet. 2013 Jan 10;92(1):76-80. doi: 10.1016/j.ajhg.2012.10.021. Epub 2012 Dec 13.