MCID: WHT015
MIFTS: 16

White Sponge Nevus 2

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

Aliases & Classifications for White Sponge Nevus 2

MalaCards integrated aliases for White Sponge Nevus 2:

Name: White Sponge Nevus 2 53 71 28 69
Wsn2 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
white sponge nevus 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 615785
MeSH 41 D053529
SNOMED-CT via HPO 65 263681008 125554003
UMLS 69 C4014321

Summaries for White Sponge Nevus 2

UniProtKB/Swiss-Prot : 71 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, and has symptoms including hyperparakeratosis and epidermal acanthosis. 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

Symptoms & Phenotypes for White Sponge Nevus 2

Symptoms via clinical synopsis from OMIM:

53
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

Skin Nails Hair Skin Histology:
epithelial thickening
hyperparakeratosis
acanthosis
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 Gastroin testinal:
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


Clinical features from OMIM:

615785

Human phenotypes related to White Sponge Nevus 2:

31
# Description HPO Frequency HPO Source Accession
1 hyperparakeratosis 31 HP:0040009
2 epidermal acanthosis 31 HP:0025092

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 28 KRT13

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:

71
# 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.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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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