Details of Disease | DrugMAP

General Information of Disease (ID: DISJE8HT)

Disease Name	Cowden syndrome 7
Synonyms	CWS7; Cowden syndrome 7; SEC23B Cowden disease; Cowden disease caused by mutation in SEC23B; Cowden syndrome type 7
Definition	Any Cowden disease in which the cause of the disease is a mutation in the SEC23B gene.
Disease Hierarchy	DISMYKCE: Cowden disease DISJE8HT: Cowden syndrome 7
Disease Identifiers	MONDO ID MONDO_0014802 UMLS CUI C4225179 OMIM ID 616858 MedGen ID 908796

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SEC23B	OT2NFSIQ	Limited	Autosomal dominant	[1]
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References

1	Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer. Am J Hum Genet. 2015 Nov 5;97(5):661-76. doi: 10.1016/j.ajhg.2015.10.001. Epub 2015 Oct 29.