WSN1
MCID: WHT013
MIFTS: 39

White Sponge Nevus 1 (WSN1) malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Oral diseases

Aliases & Classifications for White Sponge Nevus 1

Aliases & Descriptions for White Sponge Nevus 1:

Name: White Sponge Nevus 1 54 66 69
White Sponge Nevus of Cannon 12 50 25 56 66 29
Hereditary Mucosal Leukokeratosis 12 25 56 66 14
Leukokeratosis, Hereditary Mucosal 50 25 42 69
White Sponge Nevus 12 25 56 13
Wsn 50 25
Familial White Folded Mucosal Dysplasia 25
White Folded Gingivostomatosis 25
Leukokeratosis of Oral Mucosa 25
White Sponge Nevus of Mucosa 25
Hereditary Leukokeratosis 25
Hereditary Oral Keratosis 25
White Gingivostomatitis 25
White Sponge Naevus 25
Cannon's Disease 25
Nevus of Cannon 25
Wsn1 66

Characteristics:

Orphanet epidemiological data:

56
white sponge nevus
Inheritance: Autosomal dominant;

HPO:

32
white sponge nevus 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 193900
Disease Ontology 12 DOID:0050448
MeSH 42 D053529
NCIt 47 C84760
Orphanet 56 ORPHA171723
ICD10 via Orphanet 34 Q38.6
MedGen 40 C1721005
UMLS 69 C1721005

Summaries for White Sponge Nevus 1

OMIM : 54 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 white sponge nevus of cannon, is related to white sponge nevus 2 and waisman syndrome, and has symptoms including 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/superpathways are Developmental Biology and Cytoskeletal Signaling. Affiliated tissues include skin, and related phenotypes are digestive/alimentary and integument

Disease Ontology : 12 A skin disease characterized by a defect in the normal process of keratinization of the mucosa.

Genetics Home Reference : 25 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.

UniProtKB/Swiss-Prot : 66 White sponge nevus 1: A rare disorder characterized by the presence of soft, white, and spongy plaques in the oral mucosa. The characteristic histopathologic features are epithelial thickening, parakeratosis, and vacuolization of the suprabasal layer of oral epithelial keratinocytes. Less frequently the mucous membranes of the nose, esophagus, genitalia and rectum are involved.

Wikipedia : 71 White sponge nevus (WSN, or white sponge naevus, Cannon\'s disease, hereditary leukokeratosis of mucosa,... more...

Related Diseases for White Sponge Nevus 1

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 top 50) (show all 78)
id Related Disease Score Top Affiliating Genes
1 white sponge nevus 2 12.5
2 waisman syndrome 11.6
3 white sponge nevus of cannon, krt13-related 11.1
4 white sponge nevus of cannon, krt4-related 11.1
5 benign hypertensive renal disease 10.3 KRT16 KRT6A
6 sclerosteosis 1 10.3 KRT16 KRT6B
7 bradyopsia 10.3 KRT1 KRT10
8 palmoplantar keratoderma, nonepidermolytic 10.3 KRT1 KRT10
9 craniodiaphyseal dysplasia, autosomal dominant 10.3 KRT10 KRT16
10 cholesteatoma of middle ear 10.2 KRT6A KRT6B
11 brachydactyly small stature face anomalies 10.2 KRT10 KRT16
12 subglottis verrucous carcinoma 10.2 KRT1 KRT10
13 lichen planus pigmentosus 10.2 KRT1 KRT13 KRT4
14 bacteriuria 10.2 KRT16 KRT6A KRT6B
15 papilledema 10.2 KRT16 KRT6A KRT6B
16 episodic angioedema with eosinophilia 10.2 KRT1 KRT10 KRT2
17 mast-cell leukemia 10.2 KRT10 KRT13 KRT16
18 erdheim-chester disease 10.2 KRT1 KRT10 KRT9
19 ciliary dyskinesia, primary, 1, with or without situs inversus 10.2 KRT1 KRT10 KRT9
20 anal margin basal cell carcinoma 10.2 KRT10 KRT14
21 richter's syndrome 10.2 KRT1 KRT10 KRT2
22 chronic mountain sickness 10.2 KRT1 KRT16 KRT9
23 thymus squamous cell carcinoma 10.2 KRT13 KRT14 KRT4
24 steroid inherited metabolic disorder 10.2 KRT1 KRT10 KRT2
25 dowling-degos disease 1 10.2 KRT10 KRT14
26 lymphangitis 10.1 KRT13 KRT6A
27 epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia 10.1 KRT14 KRT16
28 basaloid squamous cell carcinoma 10.1 KRT10 KRT14
29 skin papilloma 10.1 KRT1 KRT13 KRT14
30 nervous system hibernoma 10.1 KRT14 KRT7
31 skin atrophy 10.1 KRT1 KRT10 KRT16
32 vulvar angiokeratoma 10.1 KRT10 KRT7
33 radiculopathy 10.1 KRT7 TP63
34 mixed cell adenoma 10.1 KRT1 KRT10 KRT14
35 colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas 10.1 KRT1 KRT10 KRT14
36 keratosis palmoplantaris striata iii 10.1 KRT1 KRT10 KRT16 KRT9
37 carotid artery thrombosis 10.0 KRT1 KRT10 KRT16 KRT9
38 aml with myelodysplasia-related features 10.0 KRT14 TP63
39 testicular granulosa cell tumor 10.0 KRT14 TP63
40 ebola hemorrhagic fever 10.0 KRT10 KRT14 KRT7
41 female breast axillary tail cancer 10.0 KRT14 KRT7
42 eccrine papillary adenoma 10.0 KRT19 KRT7
43 vascular dementia 10.0 KRT10 KRT13 KRT14 KRT16
44 proteus-like syndrome 10.0 KRT19 KRT7
45 osteosarcoma arising in bone paget's disease 10.0 KRT19 KRT7
46 neonatal respiratory failure 10.0 KRT14 TP63
47 bronchiolitis obliterans with obstructive pulmonary disease 10.0 KRT10 KRT16
48 breast adenocarcinoma 10.0 KRT19 KRT7
49 pediatric intraocular retinoblastoma 10.0 KRT14 KRT19
50 bartholin's gland adenoid cystic carcinoma 10.0 KRT19 KRT7

Graphical network of the top 20 diseases related to White Sponge Nevus 1:



Diseases related to White Sponge Nevus 1

Symptoms & Phenotypes for White Sponge Nevus 1

Symptoms by clinical synopsis from OMIM:

193900

Clinical features from OMIM:

193900

Human phenotypes related to White Sponge Nevus 1:

32
id Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939
2 oral leukoplakia 32 HP:0002745

MGI Mouse Phenotypes related to White Sponge Nevus 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.5 CCNE1 KRT14 KRT16 KRT19 KRT4 KRT6B
2 integument MP:0010771 9.28 KRT4 KRT6B PLEC TP63 CCNE1 KRT1

Drugs & Therapeutics for White Sponge Nevus 1

Search Clinical Trials , NIH Clinical Center for White Sponge Nevus 1

Cochrane evidence based reviews: leukokeratosis, hereditary mucosal

Genetic Tests for White Sponge Nevus 1

Genetic tests related to White Sponge Nevus 1:

id Genetic test Affiliating Genes
1 White Sponge Nevus of Cannon 29

Anatomical Context for White Sponge Nevus 1

MalaCards organs/tissues related to White Sponge Nevus 1:

39
Skin

Publications for White Sponge Nevus 1

Variations for White Sponge Nevus 1

UniProtKB/Swiss-Prot genetic disease variations for White Sponge Nevus 1:

66
id Symbol AA change Variation ID SNP ID
1 KRT4 p.Glu449Lys VAR_016038

ClinVar genetic disease variations for White Sponge Nevus 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KRT4 NM_002272.3(KRT4): c.419_420insCAA (p.Gln140delinsHisLys) insertion Pathogenic rs587776845 GRCh38 Chromosome 12, 52813639: 52813640
2 KRT4 NM_002272.3(KRT4): c.438_440delCAA (p.Asn146del) deletion Pathogenic rs587776844 GRCh37 Chromosome 12, 53207403: 53207405
3 KRT4 NM_002272.3(KRT4): c.1303G> A (p.Glu435Lys) single nucleotide variant Pathogenic rs62642055 GRCh37 Chromosome 12, 53201471: 53201471

Expression for White Sponge Nevus 1

Search GEO for disease gene expression data for White Sponge Nevus 1.

Pathways for White Sponge Nevus 1

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.21 KRT1 KRT10 KRT13 KRT14 KRT16 KRT19
2 12.34 KRT10 KRT13 KRT19 KRT4 KRT6A KRT6B
3
Show member pathways
12.26 KRT1 KRT10 KRT13 KRT14 KRT16 KRT19
4
Show member pathways
11.36 KRT1 KRT13 KRT14 KRT16 KRT19 KRT2

GO Terms for White Sponge Nevus 1

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

id Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 9.8 KRT1 KRT10 KRT13 KRT14 KRT16 KRT19
2 cornified envelope GO:0001533 9.54 KRT1 KRT10 KRT2
3 intermediate filament cytoskeleton GO:0045111 9.5 KRT13 KRT4 PLEC
4 costamere GO:0043034 9.4 KRT19 PLEC
5 keratin filament GO:0045095 9.32 KRT1 KRT13 KRT14 KRT2 KRT4 KRT6A
6 extracellular exosome GO:0070062 10.1 KRT1 KRT10 KRT13 KRT14 KRT16 KRT19
7 cytosol GO:0005829 10.09 CCNE1 KRT1 KRT10 KRT13 KRT14 KRT16

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.8 KRT1 KRT10 KRT13 KRT14 KRT16 KRT19
2 cytoskeleton organization GO:0007010 9.72 KRT13 KRT16 KRT4 KRT6A KRT6B
3 keratinocyte differentiation GO:0030216 9.67 KRT10 KRT16 TP63
4 epithelial cell differentiation GO:0030855 9.65 KRT14 KRT4 TP63
5 peptide cross-linking GO:0018149 9.63 KRT1 KRT10 KRT2
6 establishment of skin barrier GO:0061436 9.58 KRT1 KRT16 TP63
7 intermediate filament organization GO:0045109 9.55 KRT2 KRT9
8 epidermis development GO:0008544 9.55 KRT14 KRT16 KRT2 KRT9 TP63
9 hair cycle GO:0042633 9.54 KRT14 KRT16
10 intermediate filament cytoskeleton organization GO:0045104 9.54 KRT16 KRT6A KRT74
11 keratinocyte proliferation GO:0043616 9.52 KRT2 TP63
12 hemidesmosome assembly GO:0031581 9.51 KRT14 PLEC
13 cornification GO:0070268 9.47 KRT1 KRT10 KRT13 KRT14 KRT16 KRT19
14 keratinocyte migration GO:0051546 9.43 KRT16 KRT2
15 skin epidermis development GO:0098773 9.43 KRT1 KRT10 KRT2

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

id Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.5 KRT14 KRT16 KRT19 KRT2 KRT6A KRT6B
2 structural constituent of epidermis GO:0030280 9.33 KRT1 KRT10 KRT2
3 structural molecule activity GO:0005198 9.28 KRT1 KRT13 KRT16 KRT2 KRT4 KRT6A
4 keratin filament binding GO:1990254 9.26 KRT14 KRT74

Sources for White Sponge Nevus 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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