WSN
MCID: HRD006
MIFTS: 40

Hereditary Mucosal Leukokeratosis (WSN) malady

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

Summaries for Hereditary Mucosal Leukokeratosis

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Genetics Home Reference:22 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 based summary: 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. 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.

Disease Ontology:9 A skin disease characterized by a defect in the normal process of keratinization of the mucosa.

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

Descriptions from OMIM:46 615785,193900

Aliases & Classifications for Hereditary Mucosal Leukokeratosis

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Hereditary Mucosal Leukokeratosis, Aliases & Descriptions:

Name: Hereditary Mucosal Leukokeratosis 9 22 11 48
White Sponge Nevus of Cannon 9 42 23 22 48
White Sponge Nevus 9 10 22 48
Leukokeratosis, Hereditary Mucosal 42 22 61
Wsn 42 22 61
Familial White Folded Mucosal Dysplasia 22 61
Leukokeratosis of Oral Mucosa 22 61
Hereditary Leukokeratosis 22 61
Hereditary Oral Keratosis 22 61
 
White Sponge Naevus 22 61
White Folded Gingivo-Stomatosis 61
White Folded Gingivostomatosis 22
White Sponge Naevus of Mucosa 61
White Sponge Nevus of Mucosa 22
White Gingivostomatitis 22
Cannon's Disease 22
Nevus of Cannon 22


Classifications:



Characteristics (Orphanet epidemiological data):

48
white sponge nevus of cannon:
Inheritance: Autosomal dominant


External Ids:

Disease Ontology9 DOID:0050448
MeSH34 D053529
ICD9CM28 750.26
ICD10 via Orphanet27 Q38.6

Related Diseases for Hereditary Mucosal Leukokeratosis

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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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Clinical features from OMIM:

615785,193900

Drugs & Therapeutics for Hereditary Mucosal Leukokeratosis

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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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Genetic tests related to Hereditary Mucosal Leukokeratosis:

id Genetic test Affiliating Genes
1 White Sponge Nevus of Cannon23

Anatomical Context for Hereditary Mucosal Leukokeratosis

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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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MGI Mouse Phenotypes related to Hereditary Mucosal Leukokeratosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.0KRT4, KRT6A, KRT6B
2MP:00011868.5KRT4, KRT9, KRT2
3MP:00053828.4KRT6B, KRT2, KRT6A, KRT4
4MP:00107717.7KRT4, KRT6A, KRT9, KRT2, KRT6B

Publications for Hereditary Mucosal Leukokeratosis

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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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Expression for genes affiliated with Hereditary Mucosal Leukokeratosis

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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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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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Sources:
44Novoseek, 25HMDB
See all sources

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

idCompoundScoreTop Affiliating Genes
1retinoid449.6KRT4, KRT2
2retinoic acid44 259.9KRT13, KRT4, KRT2

GO Terms for genes affiliated with Hereditary Mucosal Leukokeratosis

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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:0700627.3KRT2, 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
  • Proteins
  • Kits and Assays

Sources for Hereditary Mucosal Leukokeratosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet