WSN
MCID: HRD006
MIFTS: 29

Hereditary Mucosal Leukokeratosis (WSN) malady

Skin, Cancer categories

Summaries for Hereditary Mucosal Leukokeratosis

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 White sponge nevus (WSN, or white sponge naevus, Cannon\'s disease, hereditary leukokeratosis of mucosa,... more...

MalaCards: Hereditary Mucosal Leukokeratosis, also known as white sponge nevus of cannon, is related to leukoplakia and pachyonychia congenita. An important gene associated with Hereditary Mucosal Leukokeratosis is KRT4 (keratin 4), and among its related pathways are Cytoskeleton remodeling Keratin filaments and Cytoskeletal Signaling. Related mouse phenotype craniofacial.

Description from OMIM:47 193900

Aliases & Classifications for Hereditary Mucosal Leukokeratosis

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 22GTR, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 35MeSH, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer
Anatomical: Skin


Characteristics (Orphanet epidemiological data):

49
white sponge nevus of cannon:
Inheritance: Autosomal dominant


Aliases & Descriptions:

hereditary mucosal leukokeratosis 8 10 49
white sponge nevus of cannon 8 43 22 49
white sponge nevus 8 9 47 49
leukokeratosis, hereditary mucosal 43 61
wsn 43


External Ids:

Disease Ontology8 DOID:0050448
OMIM47 193900
MeSH35 D053529
ICD10 via Orphanet26 Q38.6
SNOMED-CT via Orphanet58 389203001

Related Diseases for Hereditary Mucosal Leukokeratosis

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Hereditary Mucosal Leukokeratosis:



Diseases related to hereditary mucosal leukokeratosis

Clinical Features for Hereditary Mucosal Leukokeratosis

Sources:
47OMIM
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Clinical features from OMIM:

193900

Clinical synopsis from OMIM:

193900

Drugs & Therapeutics for Hereditary Mucosal Leukokeratosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Hereditary Mucosal Leukokeratosis

Drug clinical trials:

Search ClinicalTrials for Hereditary Mucosal Leukokeratosis

Search NIH Clinical Center for Hereditary Mucosal Leukokeratosis

Search CenterWatch for Hereditary Mucosal Leukokeratosis

Genetic Tests for Hereditary Mucosal Leukokeratosis

Sources:
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

Animal Models for Hereditary Mucosal Leukokeratosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Hereditary Mucosal Leukokeratosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.9KRT6B, KRT6A, KRT2, KRT4

Publications for Hereditary Mucosal Leukokeratosis

Sources:
51PubMed
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Articles related to Hereditary Mucosal Leukokeratosis:

idTitleAuthorsYear
1
Hereditary mucosal leukokeratosis. (19714779)
2009

Genetic Variations for Hereditary Mucosal Leukokeratosis

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Hereditary Mucosal Leukokeratosis:

63
id Symbol AA change Variation SNP ID
1KRT13p.Leu119ProVAR_003836
2KRT13p.Met108ThrVAR_016035
3KRT13p.Asn112SerVAR_016036
4KRT13p.Leu115ProVAR_016037
5KRT13p.Leu111ProVAR_023924
6KRT4p.Glu449LysVAR_016038

Expression for genes affiliated with Hereditary Mucosal Leukokeratosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
12EMD Millipore, 4Cell Signaling Technology
See all sources

Pathways related to Hereditary Mucosal Leukokeratosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0KRT6A, KRT13, KRT2, KRT4
29.0KRT6B, KRT6A, KRT13, KRT4

Compounds for genes affiliated with Hereditary Mucosal Leukokeratosis

GO Terms for genes affiliated with Hereditary Mucosal Leukokeratosis

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1intermediate filament cytoskeletonGO:0451119.3KRT24, KRT2
2keratin filamentGO:0450957.4KRTAP11-1, KRT86, KRT4, KRT2, KRT13, KRT6A
3intermediate filamentGO:0058827.3KRT86, KRT4, KRT2, KRT24, KRT6A, KRT9

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

idNameGO IDScoreTop Affiliating Genes
1ectoderm developmentGO:0073989.6KRT6B, KRT6A
2epidermis developmentGO:0085449.1KRT9, KRT13, KRT2

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:0052008.8KRT9, KRT6B, KRT6A, KRT2
2structural molecule activityGO:0051987.7KRTAP11-1, KRT13, KRT24, KRT4, KRT86

Products for genes affiliated with Hereditary Mucosal Leukokeratosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Mucosal Leukokeratosis

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet