Details of Disease | DrugMAP

General Information of Disease (ID: DISWAC34)

Disease Name	Hereditary mucosal leukokeratosis
Synonyms	hereditary mucosal leukokeratosis; white sponge nevus of Cannon; white sponge nevus; White sponge nevus of Cannon
Definition	White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or grayish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa.
Disease Hierarchy	DISYS32D: Melanocytic nevus DISSCALK: Hereditary skin disorder DISWAC34: Hereditary mucosal leukokeratosis
Disease Identifiers	MONDO ID MONDO_0015748 MESH ID D053529 UMLS CUI C1721005 MedGen ID 328433 Orphanet ID 171723 SNOMED CT ID 389203001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KRT13	OTTYSKGX	Supportive	Autosomal dominant	[1]
KRT4	OT24PHPM	Supportive	Autosomal dominant	[2]
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References

1	Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus. Nat Genet. 1995 Dec;11(4):453-5. doi: 10.1038/ng1295-453.
2	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.