WSN2
MCID: WHT015
MIFTS: 19

White Sponge Nevus 2 (WSN2)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for White Sponge Nevus 2

MalaCards integrated aliases for White Sponge Nevus 2:

Name: White Sponge Nevus 2 58 76 30 6 41 74
Wsn2 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
white sponge nevus 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 615785
MeSH 45 D053529
UMLS 74 C4014321

Summaries for White Sponge Nevus 2

UniProtKB/Swiss-Prot : 76 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, is also known as wsn2. An important gene associated with White Sponge Nevus 2 is KRT13 (Keratin 13). Affiliated tissues include skin, and related phenotypes are edema and epidermal acanthosis

Description from OMIM: 615785

Related Diseases for White Sponge Nevus 2

Diseases in the White Sponge Nevus 1 family:

White Sponge Nevus 2

Symptoms & Phenotypes for White Sponge Nevus 2

Human phenotypes related to White Sponge Nevus 2:

33
# Description HPO Frequency HPO Source Accession
1 edema 33 HP:0000969
2 epidermal acanthosis 33 HP:0025092
3 hyperparakeratosis 33 HP:0040009

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin Histology:
hyperparakeratosis
acanthosis
epithelial thickening
intracellular edema of spinous layer
basket-weave appearance of spinous layer
more
Head And Neck Mouth:
white spongy plaques on the buccal, labial, and soft palatal mucosa and gingiva

Abdomen Gastrointestinal:
white spongy plaques on the esophageal mucosa
white spongy plaques on the rectal mucosa

Skin Nails Hair Skin:
asymptomatic soft white spongy mucosal plaques with thick folded surfaces

Head And Neck Nose:
white spongy plaques of nasal mucosa

Respiratory Nasopharynx:
white spongy plaques on the pharyngeal mucosa

Genitourinary Internal Genitalia Female:
white spongy plaques on the vaginal mucosa

Clinical features from OMIM:

615785

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:

# Genetic test Affiliating Genes
1 White Sponge Nevus 2 30 KRT13

Anatomical Context for White Sponge Nevus 2

MalaCards organs/tissues related to White Sponge Nevus 2:

42
Skin

Publications for White Sponge Nevus 2

Articles related to White Sponge Nevus 2:

# Title Authors Year
1
Constitutional mutation of keratin 13 gene in familial white sponge nevus. ( 14600690 )
2003
2
Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma. ( 7532199 )
1995
3
Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus. ( 7493031 )
1995

Variations for White Sponge Nevus 2

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

76
# 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
# 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.356T> C (p.Leu119Pro) single nucleotide variant Pathogenic rs60440396 GRCh38 Chromosome 17, 41505195: 41505195
3 KRT13 NM_153490.2(KRT13): c.332T> C (p.Leu111Pro) single nucleotide variant Pathogenic rs59897026 GRCh37 Chromosome 17, 39661471: 39661471
4 KRT13 NM_153490.2(KRT13): c.332T> C (p.Leu111Pro) single nucleotide variant Pathogenic rs59897026 GRCh38 Chromosome 17, 41505219: 41505219

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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