WSN
MCID: HRD006
MIFTS: 40

Hereditary Mucosal Leukokeratosis (WSN) malady

Genetic diseases, Rare diseases, Skin diseases, Cancer diseases, Oral diseases categories
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Summaries for Hereditary Mucosal Leukokeratosis

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Sources:
21Genetics Home Reference, 65Wikipedia, 47OMIM, 33MalaCards
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Genetics Home Reference:21 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.

MalaCards: Hereditary Mucosal Leukokeratosis, also known as white sponge nevus of cannon, is related to pachyonychia congenita and leukoplakia. An important gene associated with Hereditary Mucosal Leukokeratosis is KRT13 (keratin 13), and among its related pathways are Cytoskeleton remodeling Keratin filaments and Cytoskeletal Signaling. The compounds retinoid and retinoic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are digestive/alimentary and pigmentation.

Wikipedia:65 White sponge nevus (WSN, or white sponge naevus, Cannon\'s disease, hereditary leukokeratosis of mucosa,... more...

Description from OMIM:47 193900,615785

Aliases & Classifications for Hereditary Mucosal Leukokeratosis

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 62UMLS, 35MeSH, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
white sponge nevus of cannon:
Inheritance: Autosomal dominant


Aliases & Descriptions:

hereditary mucosal leukokeratosis 8 21 10 49
white sponge nevus of cannon 8 43 22 21 49
white sponge nevus 8 9 21 47 49
leukokeratosis, hereditary mucosal 43 21 62
wsn 43 21
familial white folded mucosal dysplasia 21
white folded gingivostomatosis 21
leukokeratosis of oral mucosa 21
white sponge nevus of mucosa 21
hereditary oral keratosis 21
hereditary leukokeratosis 21
white gingivostomatitis 21
white sponge naevus 21
cannon's disease 21
nevus of cannon 21


External Ids:

Disease Ontology8 DOID:0050448
MeSH35 D053529
ICD10 via Orphanet26 Q38.6
SNOMED-CT via Orphanet59 389203001

Related Diseases for Hereditary Mucosal Leukokeratosis

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Hereditary Mucosal Leukokeratosis:



Diseases related to hereditary mucosal leukokeratosis

Symptoms for Hereditary Mucosal Leukokeratosis

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47OMIM
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Clinical features from OMIM:

193900,615785

Drugs & Therapeutics for Hereditary Mucosal Leukokeratosis

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Hereditary Mucosal Leukokeratosis

Search NIH Clinical Center for Hereditary Mucosal Leukokeratosis

Genetic Tests for Hereditary Mucosal Leukokeratosis

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22GTR
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Genetic tests related to Hereditary Mucosal Leukokeratosis:

id Genetic test Affiliating Genes
1 White Sponge Nevus of Cannon22

Anatomical Context for Hereditary Mucosal Leukokeratosis

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33MalaCards
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MalaCards organs/tissues related to Hereditary Mucosal Leukokeratosis:

33
Skin

Animal Models for Hereditary Mucosal Leukokeratosis or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Hereditary Mucosal Leukokeratosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.9KRT4, KRT6A, KRT6B
2MP:00011868.5KRT4, KRT9, KRT2
3MP:00053828.4KRT6B, KRT2, KRT6A, KRT4
4MP:00107717.6KRT4, KRT6A, KRT9, KRT2, KRT6B

Publications for Hereditary Mucosal Leukokeratosis

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52PubMed
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Articles related to Hereditary Mucosal Leukokeratosis:

idTitleAuthorsYear
1
Hereditary mucosal leukokeratosis. (19714779)
2009

Variations for Hereditary Mucosal Leukokeratosis

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Hereditary Mucosal Leukokeratosis:

1
id Gene Name Type Significance SNP ID Assembly Location
1KRT4NM_002272.3(KRT4): c.438_440delCAA (p.Asn146del)deletionPathogenic/card/hereditary_mucosal_leukokeratosisGRCh37Chr 12, 53207403: 53207405
2KRT4NM_002272.3(KRT4): c.419_420insCAA (p.Gln140delinsHisLys)insertionPathogenic/card/hereditary_mucosal_leukokeratosisGRCh37Chr 12, 53207423: 53207424
3KRT4NM_002272.3(KRT4): c.1303G> A (p.Glu435Lys)single nucleotide variantPathogenicrs62642055GRCh37Chr 12, 53201471: 53201471

Expression for genes affiliated with Hereditary Mucosal Leukokeratosis

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Mucosal Leukokeratosis

Search GEO for disease gene expression data for Hereditary Mucosal Leukokeratosis.

Pathways for genes affiliated with Hereditary Mucosal Leukokeratosis

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50PathCards, 60Thomson Reuters, 5Cell Signaling Technology
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Pathways related to Hereditary Mucosal Leukokeratosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.6KRT13, KRT4, KRT6A, KRT2
28.5KRT13, KRT4, KRT6A, KRT6B

Compounds for genes affiliated with Hereditary Mucosal Leukokeratosis

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45Novoseek, 24HMDB
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Compounds related to Hereditary Mucosal Leukokeratosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1retinoid459.6KRT4, KRT2
2retinoic acid45 249.9KRT13, KRT4, KRT2

GO Terms for genes affiliated with Hereditary Mucosal Leukokeratosis

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16Gene Ontology
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Cellular components related to Hereditary Mucosal Leukokeratosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filament cytoskeletonGO:0451119.6KRT2, KRT13
2intermediate filamentGO:0058828.1KRT4, KRT2, KRT9, KRT6A
3keratin filamentGO:0450957.6KRT2, KRT6B, KRTAP11-1, KRT13, KRT4, KRT6A
4extracellular vesicular exosomeGO:0700627.4KRT2, KRT9, KRT6A, KRT13, KRT6B

Biological processes related to Hereditary Mucosal Leukokeratosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1epidermis developmentGO:0085449.2KRT9, KRT2
2ectoderm developmentGO:0073989.0KRT6A, KRT6B

Molecular functions related to Hereditary Mucosal Leukokeratosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:0051989.2KRT13, KRT4, KRTAP11-1
2structural constituent of cytoskeletonGO:0052007.8KRT6A, KRT9, KRT2, KRT6B

Products for genes affiliated with Hereditary Mucosal Leukokeratosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Mucosal Leukokeratosis

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet