WSN1
MCID: WHT013
MIFTS: 39

White Sponge Nevus 1 (WSN1) malady

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

Aliases & Classifications for White Sponge Nevus 1

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Aliases & Descriptions for White Sponge Nevus 1:

Name: White Sponge Nevus 1 52 70 68
White Sponge Nevus of Cannon 11 48 25 54 70 27
Hereditary Mucosal Leukokeratosis 11 25 54 70 13
Leukokeratosis, Hereditary Mucosal 48 25 39 68
White Sponge Nevus 11 25 54 12
Wsn 48 25
Familial White Folded Mucosal Dysplasia 25
White Folded Gingivostomatosis 25
Leukokeratosis of Oral Mucosa 25
 
White Sponge Nevus of Mucosa 25
Hereditary Oral Keratosis 25
Hereditary Leukokeratosis 25
White Gingivostomatitis 25
White Sponge Naevus 25
Cannon's Disease 25
Nevus of Cannon 25
Wsn1 70

Characteristics:

Orphanet epidemiological data:

54
white sponge nevus of cannon:
Inheritance: Autosomal dominant

HPO:

64
white sponge nevus 1:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 54 
Rare skin diseases


External Ids:

OMIM52 193900
Disease Ontology11 DOID:0050448
MeSH39 D053529
NCIt45 C84760
Orphanet54 ORPHA171723
ICD10 via Orphanet31 Q38.6
MedGen37 C1721005

Summaries for White Sponge Nevus 1

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OMIM:52 White sponge nevus is a rare autosomal dominant disorder of noncornifying squamous epithelial differentiation that... (193900) more...

MalaCards based summary: White Sponge Nevus 1, also known as white sponge nevus of cannon, is related to white sponge nevus 2 and waisman syndrome, 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 are Cytoskeletal Signaling and Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin, and related mouse phenotypes are digestive/alimentary and integument.

Disease Ontology:11 A skin disease characterized by a defect in the normal process of keratinization of the mucosa.

Genetics Home Reference:25 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.

UniProtKB/Swiss-Prot:70 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.

Wikipedia:71 White sponge nevus (WSN, or white sponge naevus, Cannon\'s disease, hereditary leukokeratosis of mucosa,... more...

Related Diseases for White Sponge Nevus 1

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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 78)
idRelated DiseaseScoreTop Affiliating Genes
1white sponge nevus 212.5
2waisman syndrome11.6
3white sponge nevus of cannon, krt13-related11.1
4white sponge nevus of cannon, krt4-related11.1
5benign hypertensive renal disease10.3KRT16, KRT6A
6sclerosteosis 110.3KRT16, KRT6B
7bradyopsia10.3KRT1, KRT10
8palmoplantar keratoderma, nonepidermolytic10.3KRT1, KRT10
9craniodiaphyseal dysplasia, autosomal dominant10.3KRT10, KRT16
10cholesteatoma of middle ear10.2KRT6A, KRT6B
11brachydactyly small stature face anomalies10.2KRT10, KRT16
12subglottis verrucous carcinoma10.2KRT1, KRT10
13lichen planus pigmentosus10.2KRT1, KRT13, KRT4
14bacteriuria10.2KRT16, KRT6A, KRT6B
15papilledema10.2KRT16, KRT6A, KRT6B
16episodic angioedema with eosinophilia10.2KRT1, KRT10, KRT2
17mast-cell leukemia10.2KRT10, KRT13, KRT16
18erdheim-chester disease10.2KRT1, KRT10, KRT9
19ciliary dyskinesia, primary, 1, with or without situs inversus10.2KRT1, KRT10, KRT9
20anal margin basal cell carcinoma10.2KRT10, KRT14
21richter's syndrome10.2KRT1, KRT10, KRT2
22chronic mountain sickness10.2KRT1, KRT16, KRT9
23thymus squamous cell carcinoma10.2KRT13, KRT14, KRT4
24steroid inherited metabolic disorder10.2KRT1, KRT10, KRT2
25dowling-degos disease 110.2KRT10, KRT14
26lymphangitis10.1KRT13, KRT6A
27epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia10.1KRT14, KRT16
28basaloid squamous cell carcinoma10.1KRT10, KRT14
29skin papilloma10.1KRT1, KRT13, KRT14
30nervous system hibernoma10.1KRT14, KRT7
31skin atrophy10.1KRT1, KRT10, KRT16
32vulvar angiokeratoma10.1KRT10, KRT7
33radiculopathy10.1KRT7, TP63
34mixed cell adenoma10.1KRT1, KRT10, KRT14
35colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas10.1KRT1, KRT10, KRT14
36keratosis palmoplantaris striata iii10.1KRT1, KRT10, KRT16, KRT9
37carotid artery thrombosis10.0KRT1, KRT10, KRT16, KRT9
38aml with myelodysplasia-related features10.0KRT14, TP63
39testicular granulosa cell tumor10.0KRT14, TP63
40ebola hemorrhagic fever10.0KRT10, KRT14, KRT7
41female breast axillary tail cancer10.0KRT14, KRT7
42eccrine papillary adenoma10.0KRT19, KRT7
43vascular dementia10.0KRT10, KRT13, KRT14, KRT16
44proteus-like syndrome10.0KRT19, KRT7
45osteosarcoma arising in bone paget's disease10.0KRT19, KRT7
46neonatal respiratory failure10.0KRT14, TP63
47bronchiolitis obliterans with obstructive pulmonary disease10.0KRT10, KRT16
48breast adenocarcinoma10.0KRT19, KRT7
49pediatric intraocular retinoblastoma10.0KRT14, KRT19
50bartholin's gland adenoid cystic carcinoma10.0KRT19, KRT7

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

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Symptoms by clinical synopsis from OMIM:

193900

Clinical features from OMIM:

193900

Human phenotypes related to White Sponge Nevus 1:

 64
id Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis64 HP:0001939
2 oral leukoplakia64 HP:0002745

MGI Mouse Phenotypes related to White Sponge Nevus 1 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053817.9CCNE1, KRT14, KRT16, KRT19, KRT4, KRT6B
2MP:00107716.4CCNE1, KRT1, KRT14, KRT16, KRT19, KRT4

Drugs & Therapeutics for White Sponge Nevus 1

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for White Sponge Nevus 1


Cochrane evidence based reviews: leukokeratosis, hereditary mucosal

Genetic Tests for White Sponge Nevus 1

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Genetic tests related to White Sponge Nevus 1:

id Genetic test Affiliating Genes
1 White Sponge Nevus of Cannon27

Anatomical Context for White Sponge Nevus 1

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MalaCards organs/tissues related to White Sponge Nevus 1:

36
Skin

Publications for White Sponge Nevus 1

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Variations for White Sponge Nevus 1

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

70
id Symbol AA change Variation ID SNP ID
1KRT4p.Glu449LysVAR_016038

Clinvar genetic disease variations for White Sponge Nevus 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KRT4NM_ 002272.3(KRT4): c.438_ 440delCAA (p.Asn146del)deletionPathogenicrs587776844GRCh37Chr 12, 53207403: 53207405
2KRT4NM_ 002272.3(KRT4): c.419_ 420insCAA (p.Gln140delinsHisLys)insertionPathogenicrs587776845GRCh38Chr 12, 52813639: 52813640
3KRT4NM_ 002272.3(KRT4): c.1303G> A (p.Glu435Lys)SNVPathogenicrs62642055GRCh37Chr 12, 53201471: 53201471

Expression for genes affiliated with White Sponge Nevus 1

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

Pathways for genes affiliated with White Sponge Nevus 1

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

idSuper pathwaysScoreTop Affiliating Genes
17.5KRT10, KRT13, KRT19, KRT4, KRT6A, KRT6B
2
Show member pathways
6.6KRT1, KRT13, KRT14, KRT16, KRT19, KRT2
3
Show member pathways
5.6KRT1, KRT10, KRT13, KRT14, KRT16, KRT19
4
Show member pathways
5.6KRT1, KRT10, KRT13, KRT14, KRT16, KRT19

GO Terms for genes affiliated with White Sponge Nevus 1

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

idNameGO IDScoreTop Affiliating Genes
1cornified envelopeGO:000153310.4KRT1, KRT10, KRT2
2intermediate filament cytoskeletonGO:004511110.2KRT13, KRT4, PLEC
3costamereGO:004303410.1KRT19, PLEC
4keratin filamentGO:00450957.3KRT1, KRT13, KRT14, KRT2, KRT4, KRT6A
5intermediate filamentGO:00058826.1KRT1, KRT10, KRT13, KRT14, KRT16, KRT19
6extracellular exosomeGO:00700626.0KRT1, KRT10, KRT13, KRT14, KRT16, KRT19
7cytosolGO:00058294.8CCNE1, KRT1, KRT10, KRT13, KRT14, KRT16

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1intermediate filament organizationGO:004510910.6KRT2, KRT9
2keratinocyte migrationGO:005154610.4KRT16, KRT2
3hair cycleGO:004263310.2KRT14, KRT16
4intermediate filament cytoskeleton organizationGO:004510410.2KRT16, KRT6A, KRT74
5hemidesmosome assemblyGO:003158110.2KRT14, PLEC
6keratinocyte proliferationGO:004361610.1KRT2, TP63
7cytoskeleton organizationGO:00070109.8KRT13, KRT16, KRT4, KRT6A, KRT6B
8peptide cross-linkingGO:00181499.8KRT1, KRT10, KRT2
9establishment of skin barrierGO:00614369.8KRT1, KRT16, TP63
10epithelial cell differentiationGO:00308559.8KRT14, KRT4, TP63
11keratinocyte differentiationGO:00302169.7KRT10, KRT16, TP63
12skin epidermis developmentGO:00987739.6KRT1, KRT10, KRT2
13epidermis developmentGO:00085449.2KRT14, KRT16, KRT2, KRT9, TP63
14cornificationGO:00702686.2KRT1, KRT10, KRT13, KRT14, KRT16, KRT19
15keratinizationGO:00314246.1KRT1, KRT10, KRT13, KRT14, KRT16, KRT19

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

idNameGO IDScoreTop Affiliating Genes
1keratin filament bindingGO:199025410.3KRT14, KRT74
2structural constituent of epidermisGO:003028010.2KRT1, KRT10, KRT2
3structural constituent of cytoskeletonGO:00052008.4KRT14, KRT16, KRT19, KRT2, KRT6A, KRT6B
4structural molecule activityGO:00051987.7KRT1, KRT13, KRT16, KRT2, KRT4, KRT6A

Sources for White Sponge Nevus 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet