Details of Disease | DrugMAP

General Information of Disease (ID: DISSZB0N)

Disease Name	Cowden syndrome 1
Synonyms	Proteus-like syndrome; CWS1; multiple hamartoma syndrome; CS; cerebelloparenchymal disorder 6; Lhermitte-Duclos disease; cerebellar granule cell Hypertrophy and megalencephaly; dysplastic gangliocytoma of the cerebellum; Cowden disease caused by mutation in PTEN; Cowden syndrome type 1; Cowden syndrome 1; Lhermitte-Duclos syndrome; PTEN Cowden disease
Definition	Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene.
Disease Hierarchy	DISMYKCE: Cowden disease DISSZB0N: Cowden syndrome 1

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PTEN	TTEUQ4M	Definitive	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PTEN	OTOWDUNT	Definitive	Autosomal dominant	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.