MCID: WHT013
MIFTS: 30

White Sponge Nevus 1 malady

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

Aliases & Classifications for White Sponge Nevus 1

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White Sponge Nevus 1, Aliases & Descriptions:

Name: White Sponge Nevus 1 45
Hereditary Mucosal Leukokeratosis 9 41 21 11 47
White Sponge Nevus of Cannon 9 41 21 47 22
White Sponge Nevus 9 10 41 21 47
Leukokeratosis, Hereditary Mucosal 41 21 60
Wsn 41 21
Familial White Folded Mucosal Dysplasia 21
White Folded Gingivostomatosis 21
Leukokeratosis of Oral Mucosa 21
 
White Sponge Nevus of Mucosa 21
Hereditary Leukokeratosis 21
Hereditary Oral Keratosis 21
White Gingivostomatitis 21
White Sponge Naevus 21
Leukoplakia, Oral 60
Cannon's Disease 21
Waisman Syndrome 60
Nevus of Cannon 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
hereditary mucosal leukokeratosis:
Inheritance: Autosomal dominant


External Ids:

OMIM45 193900
Disease Ontology9 DOID:0050448
MeSH33 D053529
ICD9CM27 750.26
Orphanet47 171723
ICD10 via Orphanet26 Q38.6

Summaries for White Sponge Nevus 1

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OMIM:45 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 hereditary mucosal leukokeratosis, is related to leukoplakia and white sponge nevus 2, and has symptoms including autosomal dominant inheritance, abnormality of metabolism/homeostasis and oral leukoplakia. An important gene associated with White Sponge Nevus 1 is KRT4 (keratin 4), and among its related pathways are Cytoskeletal Signaling and Cytoskeleton remodeling Keratin filaments. The compound retinoic acid have been mentioned in the context of this disorder. Affiliated tissues include skin.

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

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.

Wikipedia:63 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 all 12)
idRelated DiseaseScoreTop Affiliating Genes
1leukoplakia30.7KRT13
2white sponge nevus 210.5
3white sponge nevus of cannon, krt4-related10.5
4white sponge nevus of cannon, krt13-related10.5
5waisman syndrome10.3
6coloboma10.3
7pachyonychia congenita10.3
8eec syndrome10.3
9woolly hair nevus10.3
10adenocarcinoma9.9KRT4, KRT13
11adenoma9.8KRT13, KRT4
12tongue squamous cell carcinoma9.7KRT4, KRT13

Graphical network of 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

HPO human phenotypes related to White Sponge Nevus 1:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 abnormality of metabolism/homeostasis HP:0001939
3 oral leukoplakia HP:0002745

Drugs & Therapeutics for White Sponge Nevus 1

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Drug clinical trials:

Search ClinicalTrials for White Sponge Nevus 1

Search NIH Clinical Center for White Sponge Nevus 1

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 Cannon22

Anatomical Context for White Sponge Nevus 1

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MalaCards organs/tissues related to White Sponge Nevus 1:

31
Skin

Animal Models for White Sponge Nevus 1 or affiliated genes

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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:

62
id Symbol AA change Variation ID SNP ID
1KRT4p.Glu449LysVAR_016038

Clinvar genetic disease variations for White Sponge Nevus 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1KRT4NM_002272.3(KRT4): c.438_440delCAA (p.Asn146del)deletionPathogenicGRCh37Chr 12, 53207403: 53207405
2KRT4NM_002272.3(KRT4): c.419_420insCAA (p.Gln140delinsHisLys)insertionPathogenicGRCh37Chr 12, 53207423: 53207424
3KRT4NM_002272.3(KRT4): c.1303G> A (p.Glu435Lys)single nucleotide variantPathogenicrs62642055GRCh37Chr 12, 53201471: 53201471

Cosmic variations for White Sponge Nevus 1:

7
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
143697TP53upper aerodigestive tract,mouth,other,dysplasia1

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 pathways (with members indented)ScoreTop Affiliating Genes
19.1KRT13, KRT4
29.1KRT13, KRT4

Compounds for genes affiliated with White Sponge Nevus 1

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Sources:
43Novoseek, 24HMDB
See all sources

Compounds related to White Sponge Nevus 1 according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1retinoic acid43 2410.1KRT13, KRT4

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
1keratin filamentGO:00450959.1KRT13, KRT4

Molecular functions related to White Sponge Nevus 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051989.1KRT13, KRT4

Products for genes affiliated with White Sponge Nevus 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for White Sponge Nevus 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet