MCID: WHT013
MIFTS: 46

White Sponge Nevus 1

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

Aliases & Classifications for White Sponge Nevus 1

MalaCards integrated aliases for White Sponge Nevus 1:

Name: White Sponge Nevus 1 53 71 69
White Sponge Nevus of Cannon 53 12 49 24 55 71 28
White Sponge Nevus 12 72 24 55 36 13
Leukokeratosis, Hereditary Mucosal 53 49 24 41 69
Hereditary Mucosal Leukokeratosis 12 24 55 71 14
Wsn1 53 71
Wsn 49 24
Familial White Folded Mucosal Dysplasia 24
White Folded Gingivostomatosis 24
Leukokeratosis of Oral Mucosa 24
White Sponge Nevus of Mucosa 24
Hereditary Leukokeratosis 24
Hereditary Oral Keratosis 24
White Gingivostomatitis 24
White Sponge Naevus 24
Cannon's Disease 24
Nevus of Cannon 24

Characteristics:

Orphanet epidemiological data:

55
white sponge nevus
Inheritance: Autosomal dominant;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
white sponge nevus 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare skin diseases


External Ids:

OMIM 53 193900
Disease Ontology 12 DOID:0050448
MeSH 41 D053529
NCIt 46 C84760
Orphanet 55 ORPHA171723
UMLS via Orphanet 70 C1721005
ICD10 via Orphanet 33 Q38.6
MedGen 39 C1721005
KEGG 36 H00724
SNOMED-CT via HPO 65 263681008 414603003 9187004

Summaries for White Sponge Nevus 1

OMIM : 53 White sponge nevus is a rare autosomal dominant disorder of noncornifying squamous epithelial differentiation that presents clinically as white, soft, thick plaques of the oral mucosa. Less frequently, the mucous membranes of the nose, esophagus, genitalia, and rectum are involved. Histopathologic features, including epithelial thickening, parakeratosis, extensive vacuolization of the suprabasal keratinocytes, and compact aggregates of keratin intermediate filaments in the upper spinus layers resemble those found in epidermal disorders shown to be associated with keratin defects (summary by Richard et al., 1995). (193900)

MalaCards based summary : White Sponge Nevus 1, also known as white sponge nevus of cannon, is related to white sponge nevus 2 and dyskeratosis, hereditary benign intraepithelial, and has symptoms including abnormality of metabolism/homeostasis and oral leukoplakia. An important gene associated with White Sponge Nevus 1 is KRT4 (Keratin 4), and among its related pathways/superpathways are Developmental Biology and Cytoskeletal Signaling. Affiliated tissues include skin and tongue, and related phenotypes are digestive/alimentary and integument

UniProtKB/Swiss-Prot : 71 White sponge nevus 1: 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.

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 171723Disease definitionWhite sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa.Visit the Orphanet disease page for more resources. Last updated: 6/2/2014

Genetics Home Reference : 24 White sponge nevus is a condition characterized by the formation of white patches of tissue called nevi (singular: nevus) that appear as thickened, velvety, sponge-like tissue. The nevi are most commonly found on the moist lining of the mouth (oral mucosa), especially on the inside of the cheeks (buccal mucosa). Affected individuals usually develop multiple nevi. Rarely, white sponge nevi also occur on the mucosae (singular: mucosa) of the nose, esophagus, genitals, or anus. The nevi are caused by a noncancerous (benign) overgrowth of cells.

Disease Ontology : 12 A skin disease characterized by a defect in the normal process of keratinization of the mucosa.

Wikipedia : 72 White sponge nevus (WSN, or white sponge naevus, Cannon\'s disease, hereditary leukokeratosis of mucosa,... more...

Related Diseases for White Sponge Nevus 1

Diseases in the White Sponge Nevus 1 family:

White Sponge Nevus 2

Diseases related to White Sponge Nevus 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 97)
# Related Disease Score Top Affiliating Genes
1 white sponge nevus 2 12.6
2 dyskeratosis, hereditary benign intraepithelial 11.5
3 waisman syndrome 11.1
4 early-onset parkinsonism-intellectual disability syndrome 10.9
5 tongue disease 10.5 KRT6A KRT6B
6 fissured tongue 10.4 KRT16 KRT6A
7 palmoplantar keratoderma, bothnian type 10.4 KRT1 KRT9
8 pachyonychia congenita 2 10.4 KRT16 KRT6B
9 erythroderma, ichthyosiform, congenital reticular 10.4 KRT1 KRT10
10 steatocystoma multiplex 10.4 KRT10 KRT16
11 ichthyosis, cyclic, with epidermolytic hyperkeratosis 10.4 KRT1 KRT10
12 squamous cell carcinoma of the oral tongue 10.4 KRT10 KRT16
13 leukoplakia 10.3 KRT1 KRT13 KRT4
14 filamentary keratitis 10.3 KRT1 KRT10
15 discoid lupus erythematosus 10.3 KRT10 KRT16
16 median rhomboid glossitis 10.3 KRT16 KRT6A KRT6B
17 glossitis 10.3 KRT16 KRT6A KRT6B
18 lichen planus 10.2 KRT10 KRT13 KRT16
19 epidermolytic acanthoma 10.2 KRT1 KRT10 KRT9
20 acanthoma 10.2 KRT1 KRT10 KRT9
21 basal cell carcinoma, infundibulocystic 10.2 KRT10 KRT14
22 epidermolysis bullosa simplex with mottled pigmentation 10.2 KRT10 KRT14
23 keratosis 10.2 KRT1 KRT10 KRT9
24 breast squamous cell carcinoma 10.2 KRT10 KRT14
25 palmoplantar keratoderma, epidermolytic 10.2 KRT1 KRT16 KRT9
26 hard palate cancer 10.2 KRT14 KRT4
27 ichthyosis 10.1 KRT1 KRT10 KRT2
28 epidermolysis bullosa simplex, dowling-meara type 10.1 KRT10 KRT14
29 predominantly cortical thymoma 10.1 KRT14 KRT19
30 vulvar intraepithelial neoplasia 10.1 KRT10 KRT7
31 nodular hidradenoma 10.1 KRT10 KRT7
32 mucositis 10.0
33 congenital ichthyosiform erythroderma 10.0 KRT1 KRT10 KRT2 KRT9
34 vesiculobullous skin disease 10.0 KRT14 PLEC
35 odontoma 10.0 KRT14 KRT19
36 skin benign neoplasm 10.0 KRT1 KRT13 KRT14
37 malignant biphasic mesothelioma 10.0 KRT10 KRT7
38 eccrine porocarcinoma 10.0 KRT1 KRT7
39 cervical clear cell adenocarcinoma 10.0 KRT14 KRT19
40 ichthyosis vulgaris 10.0 KRT1 KRT14
41 striate palmoplantar keratoderma 9.9 KRT1 KRT10 KRT14
42 palmoplantar keratoderma, nonepidermolytic 9.9 KRT1 KRT10 KRT16 KRT9
43 palmoplantar keratosis 9.9 KRT1 KRT10 KRT16 KRT9
44 intrahepatic bile duct adenoma 9.9 KRT19 KRT7
45 hidradenitis suppurativa 9.9 KRT10 KRT14
46 epidermodysplasia verruciformis 9.9 KRT1 KRT10 KRT14
47 anal gland adenocarcinoma 9.9 KRT19 KRT7
48 proliferating trichilemmal cyst 9.9 KRT19 KRT7
49 coloboma of macula 9.9
50 limbal stem cell deficiency 9.9 KRT13 KRT14 KRT19

Graphical network of the top 20 diseases related to White Sponge Nevus 1:



Diseases related to White Sponge Nevus 1

Symptoms & Phenotypes for White Sponge Nevus 1

Symptoms via clinical synopsis from OMIM:

53
Mouth:
thickened white opalescent spongy-fold mucosa in mouth

Eyes:
no conjunctival involvement

Misc:
alternate periods of remission and exacerbation
? response to penicillin

Skin:
vaginal, rectal and nasal leukokeratosis

Lab:
characteristic cell-within-cell histologic change


Clinical features from OMIM:

193900

Human phenotypes related to White Sponge Nevus 1:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 31 HP:0001939
2 oral leukoplakia 31 HP:0002745

MGI Mouse Phenotypes related to White Sponge Nevus 1:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.43 CCNE1 KRT14 KRT16 KRT19 KRT4 KRT6B
2 integument MP:0010771 9.23 CCNE1 KRT1 KRT14 KRT16 KRT19 KRT4

Drugs & Therapeutics for White Sponge Nevus 1

Search Clinical Trials , NIH Clinical Center for White Sponge Nevus 1

Cochrane evidence based reviews: leukokeratosis, hereditary mucosal

Genetic Tests for White Sponge Nevus 1

Genetic tests related to White Sponge Nevus 1:

# Genetic test Affiliating Genes
1 White Sponge Nevus of Cannon 28 KRT4

Anatomical Context for White Sponge Nevus 1

MalaCards organs/tissues related to White Sponge Nevus 1:

38
Skin, Tongue

Publications for White Sponge Nevus 1

Articles related to White Sponge Nevus 1:

(show all 12)
# Title Authors Year
1
Mutation of keratin 4 gene causing white sponge nevus in a Japanese family. ( 23182699 )
2013
2
White sponge nevus in a patient with EEC syndrome. ( 20492824 )
2010
3
Woolly hair nevus with an ipsilateral associated epidermal nevus and additional findings of a white sponge nevus. ( 20199427 )
2010
4
Two new mutations in the keratin 4 gene causing oral white sponge nevus in Chinese family. ( 18992023 )
2009
5
Identification of a Keratin 4 mutation in a chemically induced mouse mutant that models white sponge nevus. ( 16858417 )
2007
6
Constitutional mutation of keratin 13 gene in familial white sponge nevus. ( 14600690 )
2003
7
A novel mutation in the keratin 13 gene causing oral white sponge nevus. ( 11379896 )
2001
8
A glutamine insertion in the 1A alpha helical domain of the keratin 4 gene in a familial case of white sponge nevus. ( 10652003 )
2000
9
A mutation in the mucosal keratin K4 is associated with oral white sponge nevus. ( 7493030 )
1995
10
Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus. ( 7493031 )
1995
11
Expression of keratin 14 and 19 mRNA and protein in normal oral epithelia, hairy leukoplakia, tongue biting and white sponge nevus. ( 7686226 )
1993
12
Four hereditary mucosal syndromes: comparative histology and exfoliative cytology of Darier-White's disease, hereditary benign intraepithelial dyskeratosis, white sponge nevus, and pachyonychia congenita. ( 14007732 )
1961

Variations for White Sponge Nevus 1

UniProtKB/Swiss-Prot genetic disease variations for White Sponge Nevus 1:

71
# Symbol AA change Variation ID SNP ID
1 KRT4 p.Glu449Lys VAR_016038

ClinVar genetic disease variations for White Sponge Nevus 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT4 NM_002272.3(KRT4): c.438_440delCAA (p.Asn146del) deletion Pathogenic rs587776844 GRCh37 Chromosome 12, 53207403: 53207405
2 KRT4 NM_002272.3(KRT4): c.419_420insCAA (p.Gln140delinsHisLys) insertion Pathogenic rs587776845 GRCh37 Chromosome 12, 53207423: 53207424
3 KRT4 NM_002272.3(KRT4): c.1303G> A (p.Glu435Lys) single nucleotide variant Pathogenic rs62642055 GRCh37 Chromosome 12, 53201471: 53201471

Expression for White Sponge Nevus 1

Search GEO for disease gene expression data for White Sponge Nevus 1.

Pathways for White Sponge Nevus 1

Pathways related to White Sponge Nevus 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.21 KRT1 KRT10 KRT13 KRT14 KRT16 KRT19
2 12.35 KRT10 KRT13 KRT19 KRT4 KRT6A KRT6B
3
Show member pathways
12.26 KRT1 KRT10 KRT13 KRT14 KRT16 KRT19
4
Show member pathways
11.36 KRT1 KRT13 KRT14 KRT16 KRT19 KRT2

GO Terms for White Sponge Nevus 1

Cellular components related to White Sponge Nevus 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 9.8 KRT1 KRT10 KRT13 KRT14 KRT16 KRT19
2 cornified envelope GO:0001533 9.54 KRT1 KRT10 KRT2
3 intermediate filament cytoskeleton GO:0045111 9.5 KRT13 KRT4 PLEC
4 costamere GO:0043034 9.4 KRT19 PLEC
5 keratin filament GO:0045095 9.32 KRT1 KRT13 KRT14 KRT2 KRT4 KRT6A
6 cytosol GO:0005829 10.16 CCNE1 KRT1 KRT10 KRT13 KRT14 KRT16
7 extracellular exosome GO:0070062 10 KRT1 KRT10 KRT13 KRT14 KRT16 KRT19

Biological processes related to White Sponge Nevus 1 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cornification GO:0070268 9.8 KRT1 KRT10 KRT13 KRT14 KRT16 KRT19
2 epidermis development GO:0008544 9.62 KRT14 KRT16 KRT2 KRT9
3 peptide cross-linking GO:0018149 9.58 KRT1 KRT10 KRT2
4 cytoskeleton organization GO:0007010 9.55 KRT13 KRT16 KRT4 KRT6A KRT6B
5 establishment of skin barrier GO:0061436 9.51 KRT1 KRT16
6 morphogenesis of an epithelium GO:0002009 9.49 KRT16 KRT6A
7 intermediate filament organization GO:0045109 9.48 KRT2 KRT9
8 keratinization GO:0031424 9.47 KRT1 KRT10 KRT13 KRT14 KRT16 KRT19
9 hair cycle GO:0042633 9.46 KRT14 KRT16
10 hemidesmosome assembly GO:0031581 9.43 KRT14 PLEC
11 intermediate filament cytoskeleton organization GO:0045104 9.43 KRT16 KRT6A KRT74
12 keratinocyte migration GO:0051546 9.37 KRT16 KRT2

Molecular functions related to White Sponge Nevus 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.5 KRT14 KRT16 KRT19 KRT2 KRT6A KRT6B
2 structural constituent of epidermis GO:0030280 9.33 KRT1 KRT10 KRT2
3 structural molecule activity GO:0005198 9.32 KRT1 KRT10 KRT13 KRT16 KRT2 KRT4
4 keratin filament binding GO:1990254 9.26 KRT14 KRT74

Sources for White Sponge Nevus 1

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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