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 52 70 27 68
 
Wsn2 70

Classifications:



External Ids:

OMIM52 615785
MedGen37 CN187048
MeSH39 D053529

Summaries for White Sponge Nevus 2

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UniProtKB/Swiss-Prot:70 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:52 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 110.9

Symptoms & Phenotypes for White Sponge Nevus 2

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Symptoms by clinical synopsis from OMIM:

615785

Clinical features from OMIM:

615785

Human phenotypes related to White Sponge Nevus 2:

 64
id Description HPO Frequency HPO Source Accession
1 hyperparakeratosis64 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 227

Anatomical Context for White Sponge Nevus 2

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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:

70
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)SNVPathogenicrs60440396GRCh37Chr 17, 39661447: 39661447
2KRT13NM_153490.2(KRT13): c.332T> C (p.Leu111Pro)SNVPathogenicrs59897026GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet