WSN2
MCID: WHT015
MIFTS: 14

White Sponge Nevus 2 (WSN2) malady

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

Aliases & Classifications for White Sponge Nevus 2

Aliases & Descriptions for White Sponge Nevus 2:

Name: White Sponge Nevus 2 54 66 29 69
Wsn2 66

Characteristics:

HPO:

32
white sponge nevus 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 615785
MedGen 40 CN187048
MeSH 42 D053529

Summaries for White Sponge Nevus 2

UniProtKB/Swiss-Prot : 66 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: 615785

Related Diseases for White Sponge Nevus 2

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:

id Related Disease Score Top Affiliating Genes
1 white sponge nevus 1 10.9

Symptoms & Phenotypes for White Sponge Nevus 2

Symptoms by clinical synopsis from OMIM:

615785

Clinical features from OMIM:

615785

Human phenotypes related to White Sponge Nevus 2:

32
id Description HPO Frequency HPO Source Accession
1 hyperparakeratosis 32 HP:0040009

Drugs & Therapeutics for White Sponge Nevus 2

Search Clinical Trials , NIH Clinical Center for White Sponge Nevus 2

Genetic Tests for White Sponge Nevus 2

Genetic tests related to White Sponge Nevus 2:

id Genetic test Affiliating Genes
1 White Sponge Nevus 2 29

Anatomical Context for White Sponge Nevus 2

Publications for White Sponge Nevus 2

Variations for White Sponge Nevus 2

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

66
id Symbol AA change Variation ID SNP ID
1 KRT13 p.Leu119Pro VAR_003836 rs60440396
2 KRT13 p.Met108Thr VAR_016035 rs60364670
3 KRT13 p.Asn112Ser VAR_016036 rs59970018
4 KRT13 p.Leu115Pro VAR_016037 rs60906702
5 KRT13 p.Leu111Pro VAR_023924 rs59897026

ClinVar genetic disease variations for White Sponge Nevus 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KRT13 NM_153490.2(KRT13): c.356T> C (p.Leu119Pro) single nucleotide variant Pathogenic rs60440396 GRCh37 Chromosome 17, 39661447: 39661447
2 KRT13 NM_153490.2(KRT13): c.332T> C (p.Leu111Pro) single nucleotide variant Pathogenic rs59897026 GRCh37 Chromosome 17, 39661471: 39661471

Expression for White Sponge Nevus 2

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

Pathways for White Sponge Nevus 2

GO Terms for White Sponge Nevus 2

Sources for White Sponge Nevus 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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