KEGG DISEASE: White sponge nevus

DISEASE: White sponge nevus

Entry

H00724                      Disease

Name

White sponge nevus

Description

White sponge nevus is a benign autosomal dominant disorder affecting non-cornifying stratified squamous epithelia with white spongy plaques in the mouth. Mutations in KRT4 and KRT13, which are expressed in the mucosal non-cornifying stratified epithelia, are associated with the disease.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
13 Diseases of the digestive system
  Diseases or disorders of orofacial complex
   DA02  Miscellaneous specified disorders of lips or oral mucosa
    H00724  White sponge nevus

Gene

(WSN1) KRT4 [HSA:3851] [KO:K07605]
(WSN2) KRT13 [HSA:3860] [KO:K07604]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:12688839

Authors

Smith F

Title

The molecular genetics of keratin disorders.

Journal

Am J Clin Dermatol 4:347-64 (2003)
DOI:10.2165/00128071-200304050-00005

Reference

PMID:9028791

Authors

Corden LD, McLean WH

Title

Human keratin diseases: hereditary fragility of specific epithelial tissues.

Journal

Exp Dermatol 5:297-307 (1996)
DOI:10.1111/j.1600-0625.1996.tb00133.x

Reference

PMID:7493030 (KRT4)

Authors

Rugg EL, McLean WH, Allison WE, Lunny DP, Macleod RI, Felix DH, Lane EB, Munro CS

Title

A mutation in the mucosal keratin K4 is associated with oral white sponge nevus.

Journal

Nat Genet 11:450-2 (1995)
DOI:10.1038/ng1295-450

Reference

PMID:7493031 (KRT13)

Authors

Richard G, De Laurenzi V, Didona B, Bale SJ, Compton JG

Title

Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus.

Journal

Nat Genet 11:453-5 (1995)
DOI:10.1038/ng1295-453

» Japanese version

All links

Disease (2)   
   OMIM (2)   
Gene (4)   
   KEGG ORTHOLOGY (2)   
   KEGG GENES (2)   
Literature (4)   
   PubMed (4)   
All databases (10)   

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