WSN
MCID: HRD006
MIFTS: 42

Hereditary Mucosal Leukokeratosis (WSN) malady

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

Summaries for Hereditary Mucosal Leukokeratosis

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Sources:
21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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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 white sponge nevus of cannon, krt4-related. 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. Affiliated tissues include skin, and related mouse phenotype craniofacial.

Wikipedia:63 White sponge nevus (WSN, or white sponge naevus, Cannon\'s disease, hereditary leukokeratosis of mucosa,... more...

Description from OMIM:46 193900

Aliases & Classifications for Hereditary Mucosal Leukokeratosis

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Sources:
8Disease Ontology, 21Genetics Home Reference, 10DISEASES, 48Orphanet, 9diseasecard, 46OMIM, 42NIH Rare Diseases, 22GTR, 60UMLS, 34MeSH, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases, Genetic diseases
Anatomical: Skin diseases, Oral diseases


Characteristics (Orphanet epidemiological data):

48
white sponge nevus of cannon:
Inheritance: Autosomal dominant


Aliases & Descriptions:

hereditary mucosal leukokeratosis 8 21 10 48
white sponge nevus of cannon 8 42 22 21 48
white sponge nevus 8 9 21 46 48
leukokeratosis, hereditary mucosal 42 21 60
wsn 42 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
OMIM46 193900
MeSH34 D053529
ICD10 via Orphanet26 Q38.6
SNOMED-CT via Orphanet57 389203001

Related Diseases for Hereditary Mucosal Leukokeratosis

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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

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46OMIM
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Clinical features from OMIM:

193900

Clinical synopsis from OMIM:

193900

Drugs & Therapeutics for Hereditary Mucosal Leukokeratosis

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Sources:
5CenterWatch, 41NIH 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

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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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32MalaCards
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MalaCards organs/tissues related to Hereditary Mucosal Leukokeratosis:

32
Skin

Animal Models for Hereditary Mucosal Leukokeratosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hereditary Mucosal Leukokeratosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.9KRT6B, KRT6A, KRT2, KRT4

Publications for Hereditary Mucosal Leukokeratosis

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50PubMed
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Articles related to Hereditary Mucosal Leukokeratosis:

idTitleAuthorsYear
1
Hereditary mucosal leukokeratosis. (19714779)
2009

Genetic Variations for Hereditary Mucosal Leukokeratosis

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Hereditary Mucosal Leukokeratosis:

62
id Symbol AA change Variation ID 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

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Sources:
1BioGPS, 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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Sources:
12EMD Millipore, 4Cell Signaling Technology
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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

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GO Terms for genes affiliated with Hereditary Mucosal Leukokeratosis

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

idNameGO IDScoreTop Affiliating Genes
1intermediate filament cytoskeletonGO:0451119.3KRT24, 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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Mucosal Leukokeratosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet