Details of Disease | DrugMAP

General Information of Disease (ID: DISF46OE)

Disease Name	White sponge nevus 1
Synonyms	WHITE sponge NEVUS 1; WSN1; White sponge Nevus of Cannon; leukokeratosis, hereditary mucosal; hereditary mucosal leukokeratosis caused by mutation in KRT4; KRT4 hereditary mucosal leukokeratosis; white sponge nevus 1; White sponge Nevus type 1
Definition	Any hereditary mucosal leukokeratosis in which the cause of the disease is a mutation in the KRT4 gene.
Disease Hierarchy	DISWAC34: Hereditary mucosal leukokeratosis DISF46OE: White sponge nevus 1
Disease Identifiers	MONDO ID MONDO_0008676 UMLS CUI C4011926 OMIM ID 193900 MedGen ID 860363

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
KRT4	OT24PHPM	Strong	Autosomal dominant	[1]
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References

1	A glutamine insertion in the 1A alpha helical domain of the keratin 4 gene in a familial case of white sponge nevus. J Invest Dermatol. 2000 Feb;114(2):388-91. doi: 10.1046/j.1523-1747.2000.00890.x.