MCID: WHT013
MIFTS: 40

White Sponge Nevus 1 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 50 68 66
White Sponge Nevus of Cannon 11 46 24 52 68 25
Hereditary Mucosal Leukokeratosis 11 24 13 52 68
Leukokeratosis, Hereditary Mucosal 46 24 37 66
White Sponge Nevus 11 24 52 12
Wsn 46 24
Familial White Folded Mucosal Dysplasia 24
White Folded Gingivostomatosis 24
Leukokeratosis of Oral Mucosa 24
 
White Sponge Nevus of Mucosa 24
Hereditary Oral Keratosis 24
Hereditary Leukokeratosis 24
White Gingivostomatitis 24
White Sponge Naevus 24
Cannon's Disease 24
Waisman Syndrome 66
Nevus of Cannon 24
Wsn1 68

Characteristics:

Orphanet epidemiological data:

52
white sponge nevus of cannon:
Inheritance: Autosomal dominant

HPO:

62
white sponge nevus 1:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 52 
Rare skin diseases


External Ids:

OMIM50 193900
Disease Ontology11 DOID:0050448
MeSH37 D053529
NCIt43 C84760
Orphanet52 ORPHA171723
ICD10 via Orphanet29 Q38.6
MedGen35 C1721005

Summaries for White Sponge Nevus 1

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OMIM:50 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 muscle rigidity, tremor and bradykinesia. 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.

UniProtKB/Swiss-Prot:68 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.

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.

Wikipedia:69 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 96)
idRelated DiseaseScoreTop Affiliating Genes
1white sponge nevus 212.5
2waisman syndrome11.7
3white sponge nevus of cannon, krt13-related11.3
4white sponge nevus of cannon, krt4-related11.3
5conjunctiva squamous cell carcinoma10.7KRT10, KRT9
6cholesteatoma of attic10.7KRT6A, KRT6B
7abnormal pupillary function10.7KRT16, KRT6A
8lipoid nephrosis10.7KRT13, KRT16
9sclerosteosis 110.6KRT16, KRT6B
10bradyopsia10.6KRT1, KRT10
11palmoplantar keratoderma, nonepidermolytic10.6KRT1, KRT16
12white sponge nevus 110.6KRT1, KRT16
13malignant cystic nephroma10.6KRT1, KRT10
14craniodiaphyseal dysplasia, autosomal dominant10.6KRT10, KRT16
15complex lethal osteochondrodysplasia10.6KRT10, KRT16
16hypertrophic or verrucous lupus erythematosus10.5KRT10, KRT16
17pachyonychia congenita 210.5KRT16, KRT6A, KRT6B
18familial lipoprotein lipase deficiency10.5KRT16, KRT6A, KRT6B
19hypothyroidism10.5KRT16, KRT6A, KRT6B
20cole-carpenter syndrome 110.4KRT10, KRT16, KRT4
21brachydactyly type a310.4KRT1, KRT10, KRT2
22telangiectasia, hereditary hemorrhagic, type 210.4KRT1, KRT10, KRT2
23ebola hemorrhagic fever10.4KRT1, KRT10, KRT9
24freemartinism10.4KRT1, KRT10
25steroid inherited metabolic disorder10.4KRT1, KRT10, KRT2
26syringoma10.4KRT10, KRT7
27breast fibroadenoma10.4KRT1, KRT10, KRT9
28keratosis palmoplantaris striata iii10.4KRT1, KRT16, KRT9
29metatypical basal cell carcinoma10.3KRT10, KRT14
30gastric squamous cell carcinoma10.3KRT10, KRT14
31ichthyosis histrix, curth-macklin type10.3KRT1, KRT10, KRT16
32malignant epithelial mesothelioma10.3KRT10, KRT7
33signet ring basal cell carcinoma10.3KRT7, TP63
34anal squamous cell carcinoma10.3KRT13, KRT14, KRT4
35epidermolysis bullosa simplex-mp10.2KRT10, KRT14
36epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia10.2KRT14, KRT16
37mucocutaneous leishmaniasis10.2KRT14, KRT4
38lacrimal passage granuloma10.2KRT10, KRT7
39amelogenesis imperfecta local hypoplastic10.1KRT14, TP63
40bladder colonic type adenocarcinoma10.1KRT14, KRT7
41female breast lower-inner quadrant cancer10.1KRT14, KRT7
42bartholin's gland benign neoplasm10.1KRT14, TP63
43breast neuroendocrine neoplasm10.1KRT14, KRT7
44vulvar alveolar soft part sarcoma10.1KRT14, TP63
45palmoplantar keratoderma, epidermolytic10.1KRT1, KRT16, KRT74, KRT9
46gilbert syndrome10.0KRT14, KRT9, PLEC
47hemoglobin d disease10.0KRT1, KRT10, KRT14
48colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas10.0KRT1, KRT10, KRT14
49pertussis10.0KRT14, TP63
50papillary hidradenoma10.0KRT19, KRT7

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 abnormality of metabolism/homeostasis HP:0001939
2 oral leukoplakia HP:0002745

UMLS symptoms related to White Sponge Nevus 1:


muscle rigidity, tremor, bradykinesia

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 Cannon25

Anatomical Context for White Sponge Nevus 1

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MalaCards organs/tissues related to White Sponge Nevus 1:

34
Skin

Animal Models for White Sponge Nevus 1 or affiliated genes

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MGI Mouse Phenotypes related to White Sponge Nevus 1:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053817.2CCNE1, KRT14, KRT16, KRT19, KRT4, KRT6B
2MP:00107716.3CCNE1, 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:

68
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

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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
6.5KRT1, 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:004511110.0KRT13, KRT2, KRT4, PLEC
2costamereGO:00430349.7KRT19, PLEC
3keratin filamentGO:00450957.8KRT1, KRT13, KRT14, KRT2, KRT4, KRT6A
4intermediate filamentGO:00058827.5KRT10, KRT14, KRT16, KRT19, KRT2, KRT4
5nucleusGO:00056346.2CCNE1, KRT1, KRT10, KRT13, KRT14, KRT16
6extracellular exosomeGO:00700625.2KRT1, 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
3intermediate filament organizationGO:004510910.1KRT2, KRT9
4hair cycleGO:004263310.1KRT14, KRT16
5intermediate filament cytoskeleton organizationGO:00451049.9KRT16, KRT6A, KRT74
6hemidesmosome assemblyGO:00315819.8KRT14, PLEC
7keratinocyte differentiationGO:00302169.7KRT10, KRT16, TP63
8establishment of skin barrierGO:00614369.5KRT1, KRT16, TP63
9cytoskeleton organizationGO:00070109.2KRT13, KRT16, KRT2, KRT4, KRT6B
10epithelial cell differentiationGO:00308559.0KRT14, KRT4, TP63
11epidermis developmentGO:00085448.8KRT14, KRT16, KRT2, KRT9, 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 molecule activityGO:00051988.0KRT1, KRT13, KRT2, KRT4, KRT6A, KRT7
3structural constituent of cytoskeletonGO:00052007.7KRT14, KRT16, KRT19, KRT2, KRT6A, KRT6B

Sources for White Sponge Nevus 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet