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

About this section

Aliases & Descriptions for White Sponge Nevus 2:

Name: White Sponge Nevus 2 51 69 26 67
 
Wsn2 69

Classifications:



External Ids:

OMIM51 615785
MedGen36 CN187048
MeSH38 D053529

Summaries for White Sponge Nevus 2

About this section
UniProtKB/Swiss-Prot:69 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:51 615785

Related Diseases for White Sponge Nevus 2

About this section

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 for White Sponge Nevus 2

About this section

Symptoms by clinical synopsis from OMIM:

615785

Clinical features from OMIM:

615785

Human phenotypes related to White Sponge Nevus 2:

 63
id Description HPO Frequency HPO Source Accession
1 hyperparakeratosis63 HP:0040009

Drugs & Therapeutics for White Sponge Nevus 2

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for White Sponge Nevus 2

Genetic Tests for White Sponge Nevus 2

About this section

Genetic tests related to White Sponge Nevus 2:

id Genetic test Affiliating Genes
1 White Sponge Nevus 226

Anatomical Context for White Sponge Nevus 2

About this section

Animal Models for White Sponge Nevus 2 or affiliated genes

About this section

Publications for White Sponge Nevus 2

About this section

Variations for White Sponge Nevus 2

About this section

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

69
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

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

Pathways for genes affiliated with White Sponge Nevus 2

About this section

GO Terms for genes affiliated with White Sponge Nevus 2

About this section

Sources for White Sponge Nevus 2

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet