MCID: WHT013
MIFTS: 38

White Sponge Nevus 1 malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Cancer 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 49 67 65
White Sponge Nevus of Cannon 10 45 23 51 67 24
Hereditary Mucosal Leukokeratosis 10 23 12 51 67
Leukokeratosis, Hereditary Mucosal 45 23 36 65
White Sponge Nevus 10 11 23 51
Wsn 45 23
Familial White Folded Mucosal Dysplasia 23
White Folded Gingivostomatosis 23
Leukokeratosis of Oral Mucosa 23
 
White Sponge Nevus of Mucosa 23
Hereditary Leukokeratosis 23
Hereditary Oral Keratosis 23
White Gingivostomatitis 23
White Sponge Naevus 23
Waisman Syndrome 65
Cannon's Disease 23
Nevus of Cannon 23
Wsn1 67

Characteristics:

Orphanet epidemiological data:

51
white sponge nevus of cannon:
Inheritance: Autosomal dominant

HPO:

61
white sponge nevus 1:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 193900
Disease Ontology10 DOID:0050448
MeSH36 D053529
NCIt42 C84760
Orphanet51 171723
ICD10 via Orphanet28 Q38.6
MedGen34 C1721005
UMLS65 C1721005, C4011926, C0796195

Summaries for White Sponge Nevus 1

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OMIM:49 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 oral leukoplakiaand abnormality of metabolism/homeostasis. An important gene associated with White Sponge Nevus 1 is KRT4 (Keratin 4), and among its related pathways is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin, and related mouse phenotypes are digestive/alimentary and integument.

Disease Ontology:10 A skin disease characterized by a defect in the normal process of keratinization of the mucosa.

Genetics Home Reference:23 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:67 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:68 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 88)
idRelated DiseaseScoreTop Affiliating Genes
1white sponge nevus 212.9
2waisman syndrome12.1
3white sponge nevus of cannon, krt13-related11.6
4white sponge nevus of cannon, krt4-related11.6
5toxic shock syndrome10.5KRT6A, KRT6B
6strongyloidiasis10.5KRT6A, KRT6B
7myocardium cancer10.5KRT13, KRT6A
8palmoplantar keratoderma, nonepidermolytic10.5KRT1, KRT9
9white sponge nevus 110.5KRT1, KRT9
10hypertensive heart disease10.5KRT16, KRT6A
11steatocystoma multiplex10.4KRT16, KRT6B
12telangiectasia, hereditary hemorrhagic, type 210.4KRT1, KRT2
13frontotemporal lobar degeneration with ubiquitin-positive inclusions10.4KRT1, KRT10
14sclerosing cholangitis10.4
15cholangitis10.4
16vulvar clear cell hidradenocarcinoma10.4KRT1, KRT10
17levator syndrome10.4KRT1, KRT13, KRT4
18polyradiculoneuropathy10.3
19chronic inflammatory demyelinating polyradiculoneuropathy10.3
20neuronitis10.3
21malakoplakia10.3
22epilepsy benign neonatal dominant form10.3KRT1, KRT10, KRT2
23factitious disorder10.3KRT10, KRT16, KRT6A
24acantholytic acanthoma10.3KRT1, KRT10, KRT9
25ichthyosis histrix, curth-macklin type10.3KRT1, KRT10, KRT9
26drug psychosis10.3KRT1, KRT10, KRT9
27sclerosteosis 110.3KRT10, KRT16, KRT6B
28nodular basal cell carcinoma10.3KRT10, KRT14
29endocrine gland cancer10.3KRT1, KRT10, KRT2
30keratosis palmoplantaris striata iii10.3KRT1, KRT16, KRT9
31benign eccrine breast spiradenoma10.3KRT1, KRT10, KRT9
32nasal cavity squamous cell carcinoma10.3KRT10, KRT14
33inappropriate adh syndrome10.3KRT1, KRT16, KRT9
34sarcomatoid mesothelioma10.2KRT10, KRT7
35postsurgical hypothyroidism10.2KRT6A, KRT6B
36vulvar angiokeratoma10.2KRT1, KRT14
37renal fibrosis10.2KRT10, KRT14
38high molecular weight kininogen deficiency10.2KRT7, TP63
39variola minor10.2KRT14, KRT4
40sebaceous adenocarcinoma10.1KRT14, TP63
41spondylitis10.1KRT14, KRT7
42skin pilomatrix carcinoma10.1KRT1, KRT10, KRT14
43female breast upper-inner quadrant cancer10.1KRT14, KRT7
44breast ductal carcinoma10.1KRT14, KRT7
45colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas10.1KRT1, KRT10, KRT14
46sarcomatoid renal cell carcinoma10.1KRT10, KRT19
47palmoplantar keratoderma, epidermolytic10.1KRT1, KRT10, KRT16, KRT9
48adenoid squamous cell carcinoma10.1KRT14, KRT4, TP63
49skin atrophy10.1KRT14, PLEC
50anhidrosis10.1KRT14, TP63

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



Diseases related to white sponge nevus 1

Symptoms for White Sponge Nevus 1

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Symptoms by clinical synopsis from OMIM:

193900

Clinical features from OMIM:

193900

HPO human phenotypes related to White Sponge Nevus 1:

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

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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Anatomical Context for White Sponge Nevus 1

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MalaCards organs/tissues related to White Sponge Nevus 1:

33
Skin

Animal Models for White Sponge Nevus 1 or affiliated genes

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MGI Mouse Phenotypes related to White Sponge Nevus 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053817.5CCNE1, KRT14, KRT16, KRT19, KRT4, KRT6B
2MP:00107716.5CCNE1, KRT1, KRT14, KRT16, KRT19, KRT4

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:

67
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)insertionPathogenicrs587776845GRCh37Chr 12, 53207423: 53207424
3KRT4NM_002272.3(KRT4): c.1303G> A (p.Glu435Lys)single nucleotide variantPathogenicrs62642055GRCh37Chr 12, 53201471: 53201471

Cosmic variations for White Sponge Nevus 1:

7 (show all 11)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1COSM13723CDKN2Aupper aerodigestive tract,mouth,other,dysplasia1
2COSM13723CDKN2Aupper aerodigestive tract,buccal mucosa,other,dysplasia1
3COSM13722CDKN2Aupper aerodigestive tract,buccal mucosa,other,dysplasia1
4COSM13722CDKN2Aupper aerodigestive tract,mouth,other,dysplasia1
5COSM12739CDKN2Aupper aerodigestive tract,mouth,other,dysplasia1
6COSM12739CDKN2Aupper aerodigestive tract,mouth,other,dysplasia1
7COSM43848TP53upper aerodigestive tract,mouth,other,dysplasia1
8COSM43697TP53upper aerodigestive tract,mouth,other,dysplasia1
9COSM11354TP53large intestine,rectum,other,dysplasia1
10COSM14143SMAD4large intestine,rectum,other,dysplasia1
11COSM528KRASupper aerodigestive tract,mouth,other,dysplasia1

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
1
Show member pathways
6.7KRT1, KRT13, KRT14, KRT16, KRT19, KRT2

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
1intermediate filament cytoskeletonGO:00451119.5KRT13, KRT2, KRT4, PLEC
2intermediate filamentGO:00058828.6KRT10, KRT19, KRT2, KRT9
3keratin filamentGO:00450958.4KRT1, KRT13, KRT14, KRT2, KRT4, KRT6A

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

idNameGO IDScoreTop Affiliating Genes
1intermediate filament cytoskeleton organizationGO:004510410.1KRT16, KRT6A
2keratinocyte proliferationGO:00436169.9KRT2, TP63
3establishment of skin barrierGO:00614369.4KRT16, TP63
4epidermis developmentGO:00085449.4KRT16, KRT9, TP63
5epithelial cell differentiationGO:00308559.3KRT14, KRT4, TP63

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

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051989.0KRT13, KRT16, KRT4, KRT6A, KRT7

Sources for White Sponge Nevus 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet