Details of Disease | DrugMAP

General Information of Disease (ID: DISRESVP)

Disease Name	Cowden syndrome 6
Synonyms	CWS6; AKT1 Cowden disease; Cowden syndrome 6; Cowden disease caused by mutation in AKT1; Cowden syndrome type 6
Definition	Any Cowden disease in which the cause of the disease is a mutation in the AKT1 gene.
Disease Hierarchy	DISMYKCE: Cowden disease DISRESVP: Cowden syndrome 6
Disease Identifiers	MONDO ID MONDO_0014048 UMLS CUI C3554519 OMIM ID 615109 MedGen ID 767433

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
AKT1	TTWTSCV	Limited	Unknown	[1]
AKT1	TTWTSCV	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
AKT1	OT8H2YY7	Limited	Unknown	[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.