MCID: WHT015
MIFTS: 14

White Sponge Nevus 2 malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Oral diseases

Aliases & Classifications for White Sponge Nevus 2

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Aliases & Descriptions for White Sponge Nevus 2:

Name: White Sponge Nevus 2 50 68 25 66
 
Wsn2 68

Classifications:



External Ids:

OMIM50 615785
MedGen35 CN187048
MeSH37 D053529

Summaries for White Sponge Nevus 2

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UniProtKB/Swiss-Prot:68 White sponge nevus 2: A rare disorder characterized by the presence of soft, white, and spongy plaques in the oral mucosa. The characteristic histopathologic features are epithelial thickening, parakeratosis, and vacuolization of the suprabasal layer of oral epithelial keratinocytes. Less frequently the mucous membranes of the nose, esophagus, genitalia and rectum are involved.

MalaCards based summary: White Sponge Nevus 2, also known as wsn2, is related to white sponge nevus 1, and has symptoms including hyperparakeratosis An important gene associated with White Sponge Nevus 2 is KRT13 (Keratin 13).

Description from OMIM:50 615785

Related Diseases for White Sponge Nevus 2

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Diseases in the White Sponge Nevus 1 family:

white sponge nevus 2

Diseases related to White Sponge Nevus 2 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1white sponge nevus 110.0

Symptoms for White Sponge Nevus 2

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Symptoms by clinical synopsis from OMIM:

615785

Clinical features from OMIM:

615785

HPO human phenotypes related to White Sponge Nevus 2:

id Description Frequency HPO Source Accession
1 hyperparakeratosis HP:0040009

Drugs & Therapeutics for White Sponge Nevus 2

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for White Sponge Nevus 2

Genetic Tests for White Sponge Nevus 2

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Genetic tests related to White Sponge Nevus 2:

id Genetic test Affiliating Genes
1 White Sponge Nevus 225

Anatomical Context for White Sponge Nevus 2

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Animal Models for White Sponge Nevus 2 or affiliated genes

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Publications for White Sponge Nevus 2

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Variations for White Sponge Nevus 2

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UniProtKB/Swiss-Prot genetic disease variations for White Sponge Nevus 2:

68
id Symbol AA change Variation ID SNP ID
1KRT13p.Leu119ProVAR_003836rs60440396
2KRT13p.Met108ThrVAR_016035rs60364670
3KRT13p.Asn112SerVAR_016036rs59970018
4KRT13p.Leu115ProVAR_016037rs60906702
5KRT13p.Leu111ProVAR_023924rs59897026

Clinvar genetic disease variations for White Sponge Nevus 2:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KRT13NM_153490.2(KRT13): c.356T> C (p.Leu119Pro)single nucleotide variantPathogenicrs60440396GRCh37Chr 17, 39661447: 39661447
2KRT13NM_153490.2(KRT13): c.332T> C (p.Leu111Pro)single nucleotide variantPathogenicrs59897026GRCh37Chr 17, 39661471: 39661471

Expression for genes affiliated with White Sponge Nevus 2

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Search GEO for disease gene expression data for White Sponge Nevus 2.

Pathways for genes affiliated with White Sponge Nevus 2

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GO Terms for genes affiliated with White Sponge Nevus 2

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Sources for White Sponge Nevus 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet