MCID: WHT013
MIFTS: 42

White Sponge Nevus 1 malady

Genetic diseases, Rare diseases, Skin diseases, Cancer diseases, Oral diseases categories

Aliases & Classifications for White Sponge Nevus 1

About this section

Aliases & Descriptions for White Sponge Nevus 1:

Name: White Sponge Nevus 1 49 67
White Sponge Nevus of Cannon 10 45 23 51 24 67
Hereditary Mucosal Leukokeratosis 10 23 12 51 67
Leukokeratosis, Hereditary Mucosal 45 23 65 36
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
Leukoplakia, Oral 65
Cannon's Disease 23
Waisman Syndrome 65
Nevus of Cannon 23
Wsn1 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
white sponge nevus of cannon:
Inheritance: Autosomal dominant


External Ids:

OMIM49 193900
Disease Ontology10 DOID:0050448
ICD9CM29 750.26
MeSH36 D053529
Orphanet51 171723
ICD10 via Orphanet28 Q38.6
MedGen34 C1721005

Summaries for White Sponge Nevus 1

About this section
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 obesity with impaired prohormone processing, and has symptoms including autosomal dominant inheritance, abnormality of metabolism/homeostasis and oral leukoplakia. An important gene associated with White Sponge Nevus 1 is KRT4 (Keratin 4, Type II), and among its related pathways are Cytoskeletal Signaling and Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin, and related mouse phenotypes are pigmentation and craniofacial.

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

About this section

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 96)
idRelated DiseaseScoreTop Affiliating Genes
1white sponge nevus 210.6
2obesity with impaired prohormone processing10.3KRT16, KRT6A
3waisman syndrome10.3
4white sponge nevus of cannon, krt13-related10.3
5white sponge nevus of cannon, krt4-related10.3
6obesity bmiq1210.3KRT16, KRT6A
7nasal cavity cancer10.3KRT6A, KRT6B
8coloboma10.3
9tonsil cancer10.3KRT6A, KRT6B
10steatocystoma multiplex10.3KRT16, KRT6B
11hypertensive heart disease10.3KRT16, KRT6A
12frontotemporal lobar degeneration with ubiquitin-positive inclusions10.3KRT1, KRT10
13dyskeratosis, hereditary benign intraepithelial10.3
14pachyonychia congenita10.3
15eec syndrome10.3
16leukoplakia10.3
17woolly hair nevus10.3
18sclerosteosis 110.3KRT10, KRT16
19vulvar clear cell hidradenocarcinoma10.2KRT1, KRT10
20blunt duct adenosis of breast10.2KRT1, KRT10
21levator syndrome10.2KRT1, KRT13, KRT4
22familiar ovarian carcinoma10.2KRT16, KRT6A, KRT6B
23foxg1 syndrome10.2KRT16, KRT6A, KRT6B
24glossopharyngeal nerve disease10.2KRT16, KRT6A, KRT6B
25ichthyosis bullosa of siemens10.2KRT1, KRT10, KRT2
26periodic limb movement disorder10.2KRT10, KRT13, KRT16
27encephalitozoonosis10.2KRT10, KRT14
28maculopapular lupus rash10.2KRT10, KRT16
29dermal unilateral segmental cavernous angioma10.2KRT10, KRT19
30ichthyosis histrix, curth-macklin type10.2KRT1, KRT16, KRT9
31keratosis palmoplantaris striata iii10.2KRT1, KRT16, KRT9
32palmoplantar keratoderma, epidermolytic10.2KRT1, KRT16, KRT9
33pancoast tumor10.2KRT1, KRT16, KRT9
34kidney angiomyolipoma10.2KRT1, KRT10, KRT9
35hallucinogen dependence10.2KRT10, KRT14
36autoimmune hemolytic anemia10.2KRT13, KRT14, KRT4
37bronchial disease10.2KRT10, KRT14
38epidermolysis bullosa simplex, dowling-meara type10.1KRT10, KRT14
39left-right axis malformations10.1KRT14, KRT16
40amelogenesis imperfecta hypomaturation type10.1KRT14, TP63
41pediatric cns choriocarcinoma10.1KRT14, TP63
42sarcomatoid basal cell carcinoma10.1KRT14, KRT19
43asthenopia10.1KRT1, KRT10, KRT2, KRT9
44cocaine dependence10.1
45drug dependence10.1
46skin tag10.1
47ichthyosis, cyclic, with epidermolytic hyperkeratosis10.1KRT1, KRT10, KRT16, KRT9
48anhidrosis10.0KRT14, TP63
49odontoma dysphagia syndrome10.0KRT14, KRT19
50vulva basal cell carcinoma10.0KRT7, 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

About this section

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 autosomal dominant inheritance HP:0000006
2 abnormality of metabolism/homeostasis HP:0001939
3 oral leukoplakia HP:0002745

Drugs & Therapeutics for White Sponge Nevus 1

About this section

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

About this section

Genetic tests related to White Sponge Nevus 1:

id Genetic test Affiliating Genes
1 White Sponge Nevus of Cannon24

Anatomical Context for White Sponge Nevus 1

About this section

MalaCards organs/tissues related to White Sponge Nevus 1:

33
Skin

Animal Models for White Sponge Nevus 1 or affiliated genes

About this section

MGI Mouse Phenotypes related to White Sponge Nevus 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.4KRT1, KRT14, KRT2, KRT4, KRT9
2MP:00053828.3KRT10, KRT14, KRT16, KRT2, KRT4, KRT6A
3MP:00020068.0CCNE1, KRT10, KRT14, KRT19, KRT9, TP63
4MP:00053817.7CCNE1, KRT14, KRT16, KRT19, KRT4, KRT6A
5MP:00107686.5CCNE1, KRT1, KRT10, KRT14, KRT16, KRT19
6MP:00053786.2CCNE1, KRT1, KRT10, KRT14, KRT16, KRT19
7MP:00107715.8CCNE1, KRT1, KRT10, KRT14, KRT16, KRT19

Publications for White Sponge Nevus 1

About this section

Variations for White Sponge Nevus 1

About this section

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

Expression for genes affiliated with White Sponge Nevus 1

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

Pathways for genes affiliated with White Sponge Nevus 1

About this section

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
17.6KRT10, KRT13, KRT19, KRT4, KRT6A, KRT6B
2
Show member pathways
6.7KRT1, KRT13, KRT14, KRT16, KRT19, KRT2

GO Terms for genes affiliated with White Sponge Nevus 1

About this section

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

idNameGO IDScoreTop Affiliating Genes
1intermediate filament cytoskeletonGO:004511110.0KRT13, KRT2, KRT4, PLEC
2costamereGO:00430349.5KRT19, PLEC
3keratin filamentGO:00450956.8KRT1, KRT10, KRT13, KRT14, KRT2, KRT4
4intermediate filamentGO:00058826.4KRT1, KRT10, KRT13, KRT14, KRT16, KRT19
5nucleusGO:00056346.2CCNE1, KRT1, KRT10, KRT13, KRT14, KRT16
6extracellular exosomeGO:00700625.3KRT1, KRT10, KRT13, KRT14, KRT16, KRT19

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1keratinocyte migrationGO:005154610.5KRT16, KRT2
2keratinocyte proliferationGO:004361610.2KRT2, TP63
3hair cycleGO:004263310.1KRT14, KRT16
4morphogenesis of an epitheliumGO:000200910.1KRT16, KRT6A
5intermediate filament cytoskeleton organizationGO:004510410.0KRT16, KRT6A, KRT74
6establishment of skin barrierGO:00614369.9KRT1, KRT16, TP63
7cytoskeleton organizationGO:00070109.7KRT13, KRT16, KRT4
8hemidesmosome assemblyGO:00315819.7KRT14, PLEC
9keratinocyte differentiationGO:00302169.4KRT10, KRT16, TP63
10epidermis developmentGO:00085448.9KRT14, KRT16, KRT2, KRT9, TP63
11epithelial cell differentiationGO:00308558.7KRT10, KRT14, KRT4, TP63

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

idNameGO IDScoreTop Affiliating Genes
1keratin filament bindingGO:199025410.0KRT14, KRT74
2structural constituent of cytoskeletonGO:00052008.2KRT14, KRT16, KRT19, KRT2, KRT6A, KRT6B
3structural molecule activityGO:00051984.8KRT1, KRT10, KRT13, KRT14, KRT16, KRT19

Sources for White Sponge Nevus 1

About this section
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