MCID: WHT013
MIFTS: 38

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 51 69 67
White Sponge Nevus of Cannon 11 47 25 53 69 26
Hereditary Mucosal Leukokeratosis 11 25 53 69 13
Leukokeratosis, Hereditary Mucosal 47 25 38 67
White Sponge Nevus 11 25 53 12
Wsn 47 25
Familial White Folded Mucosal Dysplasia 25
White Folded Gingivostomatosis 25
Leukokeratosis of Oral Mucosa 25
 
White Sponge Nevus of Mucosa 25
Hereditary Leukokeratosis 25
Hereditary Oral Keratosis 25
White Gingivostomatitis 25
White Sponge Naevus 25
Waisman Syndrome 67
Cannon's Disease 25
Nevus of Cannon 25
Wsn1 69

Characteristics:

Orphanet epidemiological data:

53
white sponge nevus of cannon:
Inheritance: Autosomal dominant

HPO:

63
white sponge nevus 1:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 53 
Rare skin diseases


External Ids:

OMIM51 193900
Disease Ontology11 DOID:0050448
MeSH38 D053529
NCIt44 C84760
Orphanet53 ORPHA171723
ICD10 via Orphanet30 Q38.6
MedGen36 C1721005

Summaries for White Sponge Nevus 1

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OMIM:51 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, oral leukoplakia and muscle rigidity. 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:69 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: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.

Wikipedia:70 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 91)
idRelated DiseaseScoreTop Affiliating Genes
1white sponge nevus 212.5
2waisman syndrome11.5
3white sponge nevus of cannon, krt13-related11.1
4white sponge nevus of cannon, krt4-related11.1
5cholesteatoma of attic10.6KRT6A, KRT6B
6abnormal pupillary function10.6KRT16, KRT6A
7lipoid nephrosis10.6KRT13, KRT16
8sclerosteosis 110.5KRT16, KRT6B
9bradyopsia10.5KRT1, KRT10
10palmoplantar keratoderma, nonepidermolytic10.5KRT1, KRT16
11malignant cystic nephroma10.5KRT1, KRT10
12craniodiaphyseal dysplasia, autosomal dominant10.5KRT10, KRT16
13complex lethal osteochondrodysplasia10.5KRT10, KRT16
14hypertrophic or verrucous lupus erythematosus10.5KRT10, KRT16
15pachyonychia congenita 210.4KRT16, KRT6A, KRT6B
16hypothyroidism10.4KRT16, KRT6A, KRT6B
17cole-carpenter syndrome 110.4KRT10, KRT16, KRT4
18brachydactyly type a310.4KRT1, KRT10, KRT2
19telangiectasia, hereditary hemorrhagic, type 210.3KRT1, KRT10, KRT2
20ebola hemorrhagic fever10.3KRT1, KRT10, KRT9
21freemartinism10.3KRT1, KRT10
22steroid inherited metabolic disorder10.3KRT1, KRT10, KRT2
23syringoma10.3KRT10, KRT7
24breast fibroadenoma10.3KRT1, KRT10, KRT9
25keratosis palmoplantaris striata iii10.3KRT1, KRT16, KRT9
26metatypical basal cell carcinoma10.3KRT10, KRT14
27gastric squamous cell carcinoma10.3KRT10, KRT14
28ichthyosis histrix, curth-macklin type10.3KRT1, KRT10, KRT16
29malignant epithelial mesothelioma10.2KRT10, KRT7
30signet ring basal cell carcinoma10.2KRT7, TP63
31anal squamous cell carcinoma10.2KRT13, KRT14, KRT4
32epidermolysis bullosa simplex-mp10.2KRT10, KRT14
33epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia10.2KRT14, KRT16
34mucocutaneous leishmaniasis10.2KRT14, KRT4
35lacrimal passage granuloma10.2KRT10, KRT7
36amelogenesis imperfecta local hypoplastic10.1KRT14, TP63
37bladder colonic type adenocarcinoma10.1KRT14, KRT7
38female breast lower-inner quadrant cancer10.1KRT14, KRT7
39bartholin's gland benign neoplasm10.1KRT14, TP63
40breast neuroendocrine neoplasm10.1KRT14, KRT7
41vulvar alveolar soft part sarcoma10.1KRT14, TP63
42palmoplantar keratoderma, epidermolytic10.0KRT1, KRT16, KRT74, KRT9
43gilbert syndrome10.0KRT14, KRT9, PLEC
44hemoglobin d disease10.0KRT1, KRT10, KRT14
45colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas10.0KRT1, KRT10, KRT14
46pertussis10.0KRT14, TP63
47small non-cleaved cell lymphoma10.0KRT1, KRT10, KRT14
48vascular hemostatic disease10.0KRT14, TP63
49papillary hidradenoma10.0KRT19, KRT7
50subareolar duct papillomatosis9.9KRT19, 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

Human phenotypes related to White Sponge Nevus 1:

 63
id Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis63 HP:0001939
2 oral leukoplakia63 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 Cannon26

Anatomical Context for White Sponge Nevus 1

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MalaCards organs/tissues related to White Sponge Nevus 1:

35
Skin

Animal Models for White Sponge Nevus 1 or affiliated genes

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MGI Mouse Phenotypes related to White Sponge Nevus 1:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053817.9CCNE1, KRT14, KRT16, KRT19, KRT4, KRT6B
2MP:00107716.4CCNE1, 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:

69
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)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
6.5KRT1, 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:00700625.0KRT1, 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
4intermediate filament cytoskeleton organizationGO:00451049.9KRT16, KRT6A, KRT74
5intermediate filament organizationGO:00451099.9KRT2, KRT9
6hemidesmosome assemblyGO:00315819.8KRT14, PLEC
7keratinocyte differentiationGO:00302169.7KRT10, KRT16, TP63
8establishment of skin barrierGO:00614369.5KRT1, KRT16, TP63
9epithelial cell differentiationGO:00308559.1KRT14, KRT4, TP63
10cytoskeleton organizationGO:00070108.9KRT13, KRT16, KRT2, KRT4, KRT6B
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet