MCID: WHT015
MIFTS: 16

White Sponge Nevus 2

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

Aliases & Classifications for White Sponge Nevus 2

MalaCards integrated aliases for White Sponge Nevus 2:

Name: White Sponge Nevus 2 57 75 29 6 40 73
Wsn2 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
white sponge nevus 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615785
MeSH 44 D053529
SNOMED-CT via HPO 69 263681008 125554003
UMLS 73 C4014321

Summaries for White Sponge Nevus 2

UniProtKB/Swiss-Prot : 75 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). Related phenotypes are hyperparakeratosis 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

Symptoms via clinical synopsis from OMIM:

57
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 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


Clinical features from OMIM:

615785

Human phenotypes related to White Sponge Nevus 2:

32
# Description HPO Frequency HPO Source Accession
1 hyperparakeratosis 32 HP:0040009
2 epidermal acanthosis 32 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 29 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:

75
# 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....