WSN1
MCID: WHT013
MIFTS: 45

White Sponge Nevus 1 (WSN1)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for White Sponge Nevus 1

MalaCards integrated aliases for White Sponge Nevus 1:

Name: White Sponge Nevus 1 57 72 29 6 70
White Sponge Nevus of Cannon 57 12 20 43 58 72 39
White Sponge Nevus 12 73 43 58 36 13
Leukokeratosis, Hereditary Mucosal 57 20 43 44 70
Hereditary Mucosal Leukokeratosis 12 43 58 72 15
Wsn1 57 72
Wsn 20 43
Familial White Folded Mucosal Dysplasia 43
White Folded Gingivostomatosis 43
Leukokeratosis of Oral Mucosa 43
White Sponge Nevus of Mucosa 43
Hereditary Leukokeratosis 43
Hereditary Oral Keratosis 43
White Gingivostomatitis 43
White Sponge Naevus 43
Cannon's Disease 43
Nevus of Cannon 43

Characteristics:

Orphanet epidemiological data:

58
white sponge nevus
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
white sponge nevus 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0050448
OMIM® 57 193900
OMIM Phenotypic Series 57 PS193900
KEGG 36 H00724
MeSH 44 D053529
NCIt 50 C84760
SNOMED-CT 67 85388002
ICD10 via Orphanet 33 Q38.6
UMLS via Orphanet 71 C1721005
Orphanet 58 ORPHA171723
SNOMED-CT via HPO 68 263681008 414603003 9187004
UMLS 70 C1721005 C4011926

Summaries for White Sponge Nevus 1

MedlinePlus Genetics : 43 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.White sponge nevus can be present from birth but usually first appears during early childhood. The size and location of the nevi can change over time. In the oral mucosa, both sides of the mouth are usually affected. The nevi are generally painless, but the folds of extra tissue can promote bacterial growth, which can lead to infection that may cause discomfort. The altered texture and appearance of the affected tissue, especially the oral mucosa, can be bothersome for some affected individuals.

MalaCards based summary : White Sponge Nevus 1, also known as white sponge nevus of cannon, is related to leukoplakia and familial woolly hair syndrome. 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 tongue and skin, and related phenotypes are abnormality of metabolism/homeostasis and oral leukoplakia

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

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171723 Definition White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa.

OMIM® : 57 White sponge nevus is a rare autosomal dominant disorder of noncornifying squamous epithelial differentiation that presents clinically as white, soft, thick plaques of the oral mucosa. Less frequently, the mucous membranes of the nose, esophagus, genitalia, and rectum are involved. Histopathologic features, including epithelial thickening, parakeratosis, extensive vacuolization of the suprabasal keratinocytes, and compact aggregates of keratin intermediate filaments in the upper spinus layers resemble those found in epidermal disorders shown to be associated with keratin defects (summary by Richard et al., 1995). (193900) (Updated 20-May-2021)

KEGG : 36 White sponge nevus is a benign autosomal dominant disorder affecting non-cornifying stratified squamous epithelia with white spongy plaques in the mouth. Mutations in KRT4 and KRT13, which are expressed in the mucosal non-cornifying stratified epithelia, are associated the disease.

UniProtKB/Swiss-Prot : 72 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 : 73 White sponge nevus WSN, is an autosomal dominant condition of the oral mucosa (the mucous membrane... 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 64)
# Related Disease Score Top Affiliating Genes
1 leukoplakia 30.6 KRT4 KRT13 KRT1
2 familial woolly hair syndrome 29.7 KRT86 KRT73 KRT6A
3 pachyonychia congenita 1 29.7 KRT86 KRT6B KRT6A KRT4 KRT2 KRT1
4 epidermolytic hyperkeratosis 29.5 KRT86 KRT6B KRT6A KRT2 KRT1
5 white sponge nevus 2 11.9
6 waisman syndrome 11.2
7 influenza 10.5
8 keratosis 10.3
9 oral squamous cell carcinoma 10.2
10 focal epithelial hyperplasia 10.2
11 median rhomboid glossitis 10.2 KRT6B KRT6A
12 glossitis 10.2 KRT6B KRT6A
13 focal palmoplantar keratoderma 10.2 KRT6B KRT6A
14 avian influenza 10.1
15 palmoplantar keratoderma, nonepidermolytic 10.1 KRT6A KRT1
16 angular cheilitis 10.1 KRT6B KRT6A
17 keratinopathic ichthyosis 10.1 KRT2 KRT1
18 palmoplantar keratoderma, nonepidermolytic, focal or diffuse 10.1 KRT6B KRT6A
19 epidermolytic acanthoma 10.1 KRT2 KRT1
20 palmoplantar keratoderma, nonepidermolytic, focal 1 10.1 KRT6B KRT6A KRT2
21 coloboma of macula 10.1
22 ichthyosis bullosa of siemens 10.1 KRT2 KRT1
23 swine influenza 10.1
24 pulmonary edema 10.1
25 epidermolysis bullosa simplex with mottled pigmentation 10.0 KRT86 KRT4
26 darier-white disease 10.0
27 dyskeratosis, hereditary benign intraepithelial 10.0
28 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.0
29 systemic lupus erythematosus 10.0
30 nevus, epidermal 10.0
31 split-hand/foot malformation 1 10.0
32 basal cell carcinoma 1 10.0
33 pachyonychia congenita 3 10.0
34 oral hairy leukoplakia 10.0
35 squamous cell papilloma 10.0
36 oral candidiasis 10.0
37 candidiasis 10.0
38 ectodermal dysplasia 10.0
39 papilloma 10.0
40 lupus erythematosus 10.0
41 cleft lip 10.0
42 intrinsic asthma 10.0
43 oral leukoplakia 10.0
44 dysphagia 10.0
45 posttransplant acute limbic encephalitis 10.0
46 cleft lip/palate 10.0
47 isolated split hand-split foot malformation 10.0
48 autosomal dominant epidermolytic ichthyosis 10.0
49 myopathy, myofibrillar, 3 10.0 SYNM SYNC
50 myopathy, myofibrillar, 1 10.0 SYNM SYNC

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

Human phenotypes related to White Sponge Nevus 1:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 31 HP:0001939
2 oral leukoplakia 31 HP:0002745

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Mouth:
thickened white opalescent spongy-fold mucosa in mouth

Eyes:
no conjunctival involvement

Misc:
alternate periods of remission and exacerbation
? response to penicillin

Skin:
vaginal, rectal and nasal leukokeratosis

Lab:
characteristic cell-within-cell histologic change

Clinical features from OMIM®:

193900 (Updated 20-May-2021)

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:

# Genetic test Affiliating Genes
1 White Sponge Nevus 1 29 KRT4

Anatomical Context for White Sponge Nevus 1

MalaCards organs/tissues related to White Sponge Nevus 1:

40
Tongue, Skin

Publications for White Sponge Nevus 1

Articles related to White Sponge Nevus 1:

(show top 50) (show all 127)
# Title Authors PMID Year
1
A glutamine insertion in the 1A alpha helical domain of the keratin 4 gene in a familial case of white sponge nevus. 57 6 61
10652003 2000
2
A mutation in the mucosal keratin K4 is associated with oral white sponge nevus. 57 6 61
7493030 1995
3
Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus. 57 61
7493031 1995
4
White sponge nevus. 61 57
7469444 1981
5
The electron microscopic examination of congenital keratoses of the oral mucous membranes. I. White sponge nevus. 61 57
5261909 1970
6
Four hereditary mucosal syndromes: comparative histology and exfoliative cytology of Darier-White's disease, hereditary benign intraepithelial dyskeratosis, white sponge nevus, and pachyonychia congenita. 57 61
14007732 1961
7
A novel mutation in the keratin 4 gene causing white sponge naevus. 6
12828738 2003
8
White sponge naevus of the mucosa: clinical and linkage data. 57
5779421 1969
9
Hereditary leukokeratosis of the mucous membranes. 57
5675990 1968
10
Hereditary mucosal keratosis. 57
6042731 1967
11
Hereditary leukokeratosis, white mouth. 57
5910766 1966
12
White Sponge Nevus of Glans Penis. 61
33657890 2021
13
Keratin 13 deficiency causes white sponge nevus in mice. 61
32758484 2020
14
Successful Treatment of White Sponge Nevus With Oral Doxycycline: A Case Report and Review of the Literature. 61
33220312 2020
15
White sponge nevus in a three-year-old boy: A case report. 61
32705783 2020
16
White sponge nevus: A condition not always clinically suspected. 61
31568560 2020
17
Oral White Sponge Nevus: An Exceptional Differential Diagnosis in Childhood. 61
32908720 2020
18
The molecular-based differentiation of Heck's disease from its mimics including oral condyloma and white sponge nevus. 61
31473371 2019
19
Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management. 61
31090139 2019
20
Frictional Keratosis, Contact Keratosis and Smokeless Tobacco Keratosis: Features of Reactive White Lesions of the Oral Mucosa. 61
30671762 2019
21
Keratin 4 regulates the development of human white sponge nevus. 61
29738605 2018
22
Clinical features and molecular genetic analysis in a Turkish family with oral white sponge nevus. 61
29476668 2018
23
Mutations in the genes for keratin-4 and keratin-13 in Swedish patients with white sponge nevus. 61
29047160 2018
24
A novel keratin 13 variant in a four-generation family with white sponge nevus. 61
28878914 2017
25
White Sponge Nevus: Report of a Case and Review of the Literature. 61
29034652 2017
26
Familiar white sponge nevus. 61
27450170 2017
27
White sponge nevus: Report of three cases in a single family. 61
27601826 2016
28
Erratum to: Expression profiling of white sponge nevus by RNA sequencing revealed pathological pathways. 61
26399259 2015
29
Expression profiling of white sponge nevus by RNA sequencing revealed pathological pathways. 61
26062705 2015
30
Current approaches to the diagnosis and treatment of white sponge nevus. 61
26021387 2015
31
Familial Case of White Sponge Nevus - Diagnosis and Therapeutical Challenges. 61
26476912 2015
32
Keratin 13 mutations associated with oral white sponge nevus in two Chinese families. 61
25606422 2014
33
White sponge nevus - a rare autosomal dominant keratinopathy. 61
24810752 2014
34
[Siblings present different clinical manifestations in white sponge nevus]. 61
23991589 2013
35
Carmakila: An effective management by kshara karma. 61
24250149 2013
36
Mutation of keratin 4 gene causing white sponge nevus in a Japanese family. 61
23182699 2013
37
White sponge nevus treated with chlorhexidine. 61
22385147 2012
38
White sponge nevus caused by a missense mutation in the keratin 4 gene. 61
22645290 2012
39
White sponge nevus: clinical suspicion and diagnosis. 61
22352924 2012
40
Familial white sponge nevus of the oral mucosa: report of occurrence in three generations. 61
22532946 2012
41
Oral infection by Staphylococcus aureus in patients affected by White Sponge Nevus: a description of two cases occurred in the same family. 61
22211089 2012
42
Familial case of oral white sponge nevus--a rare hereditary condition. 61
22068767 2011
43
Bilateral white cheeks. White sponge nevus. 61
21062725 2010
44
White sponge nevus in a patient with EEC syndrome. 61
20492824 2010
45
White sponge nevus presenting as genital lesions in a 28-year-old female. 61
19602060 2010
46
Woolly hair nevus with an ipsilateral associated epidermal nevus and additional findings of a white sponge nevus. 61
20199427 2010
47
White sponge nevus: a case report. 61
23230487 2009
48
Two new mutations in the keratin 4 gene causing oral white sponge nevus in Chinese family. 61
18992023 2009
49
Oral and maxillofacial pathology case of the month. White sponge nevus. 61
18767532 2008
50
White sponge nevus. 61
18627752 2008

Variations for White Sponge Nevus 1

ClinVar genetic disease variations for White Sponge Nevus 1:

6 (show top 50) (show all 84)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT4 NM_002272.4(KRT4):c.432_434CAA[2] (p.Asn146del) Microsatellite Pathogenic 16918 rs587776844 GRCh37: 12:53207403-53207405
GRCh38: 12:52813619-52813621
2 KRT4 NM_002272.4(KRT4):c.419_420insCAA (p.Gln140delinsHisLys) Insertion Pathogenic 16919 rs587776845 GRCh37: 12:53207423-53207424
GRCh38: 12:52813639-52813640
3 KRT4 NM_002272.4(KRT4):c.1303G>A (p.Glu435Lys) SNV Pathogenic 16920 rs62642055 GRCh37: 12:53201471-53201471
GRCh38: 12:52807687-52807687
4 KRT4 NM_002272.4(KRT4):c.677+4C>T SNV Uncertain significance 309688 rs886049642 GRCh37: 12:53205543-53205543
GRCh38: 12:52811759-52811759
5 KRT13 NM_153490.3(KRT13):c.540T>C (p.Ile180=) SNV Uncertain significance 323097 rs755205284 GRCh37: 17:39659933-39659933
GRCh38: 17:41503681-41503681
6 KRT4 NM_002272.4(KRT4):c.405G>A (p.Thr135=) SNV Uncertain significance 309700 rs762792489 GRCh37: 12:53207438-53207438
GRCh38: 12:52813654-52813654
7 KRT4 NM_002272.4(KRT4):c.741C>G (p.Asp247Glu) SNV Uncertain significance 309683 rs369593094 GRCh37: 12:53203260-53203260
GRCh38: 12:52809476-52809476
8 KRT4 NM_002272.4(KRT4):c.353T>G (p.Leu118Trp) SNV Uncertain significance 309703 rs886049644 GRCh37: 12:53207490-53207490
GRCh38: 12:52813706-52813706
9 KRT4 NM_002272.4(KRT4):c.678-10C>T SNV Uncertain significance 309686 rs777722293 GRCh37: 12:53204610-53204610
GRCh38: 12:52810826-52810826
10 KRT4 NM_002272.4(KRT4):c.186C>T (p.Ser62=) SNV Uncertain significance 309711 rs886049645 GRCh37: 12:53207657-53207657
GRCh38: 12:52813873-52813873
11 KRT4 NM_002272.4(KRT4):c.25C>G (p.Arg9Gly) SNV Uncertain significance 309714 rs886049646 GRCh37: 12:53207818-53207818
GRCh38: 12:52814034-52814034
12 KRT4 NM_002272.4(KRT4):c.*405G>A SNV Uncertain significance 309658 rs886049638 GRCh37: 12:53200448-53200448
GRCh38: 12:52806664-52806664
13 KRT4 NM_002272.4(KRT4):c.457G>A (p.Asp153Asn) SNV Uncertain significance 309698 rs780754412 GRCh37: 12:53207386-53207386
GRCh38: 12:52813602-52813602
14 KRT4 NM_002272.4(KRT4):c.*289G>A SNV Uncertain significance 309659 rs886049639 GRCh37: 12:53200564-53200564
GRCh38: 12:52806780-52806780
15 KRT4 NM_002272.4(KRT4):c.463-9T>C SNV Uncertain significance 309697 rs886049643 GRCh37: 12:53205770-53205770
GRCh38: 12:52811986-52811986
16 KRT4 NM_002272.4(KRT4):c.726G>A (p.Val242=) SNV Uncertain significance 309684 rs886049641 GRCh37: 12:53204552-53204552
GRCh38: 12:52810768-52810768
17 KRT4 NM_002272.4(KRT4):c.54C>G (p.Gly18=) SNV Uncertain significance 309713 rs748727199 GRCh37: 12:53207789-53207789
GRCh38: 12:52814005-52814005
18 KRT4 NM_002272.4(KRT4):c.*126C>A SNV Uncertain significance 309662 rs886049640 GRCh37: 12:53200727-53200727
GRCh38: 12:52806943-52806943
19 KRT4 NM_002272.4(KRT4):c.364C>G (p.Leu122Val) SNV Uncertain significance 309702 rs758695571 GRCh37: 12:53207479-53207479
GRCh38: 12:52813695-52813695
20 KRT4 NM_002272.4(KRT4):c.834+2T>G SNV Uncertain significance 631683 rs937464890 GRCh37: 12:53203165-53203165
GRCh38: 12:52809381-52809381
21 KRT4 NM_002272.4(KRT4):c.*496T>G SNV Uncertain significance 881137 GRCh37: 12:53200357-53200357
GRCh38: 12:52806573-52806573
22 KRT4 NM_002272.4(KRT4):c.1072C>G (p.Leu358Val) SNV Uncertain significance 881185 GRCh37: 12:53202131-53202131
GRCh38: 12:52808347-52808347
23 KRT4 NM_002272.4(KRT4):c.317C>G (p.Ala106Gly) SNV Uncertain significance 881236 GRCh37: 12:53207526-53207526
GRCh38: 12:52813742-52813742
24 KRT4 NM_002272.4(KRT4):c.1467C>A (p.Gly489=) SNV Uncertain significance 881603 GRCh37: 12:53200949-53200949
GRCh38: 12:52807165-52807165
25 KRT4 NM_002272.4(KRT4):c.193G>A (p.Val65Met) SNV Uncertain significance 881697 GRCh37: 12:53207650-53207650
GRCh38: 12:52813866-52813866
26 KRT4 NM_002272.4(KRT4):c.1441G>A (p.Gly481Arg) SNV Uncertain significance 882761 GRCh37: 12:53200975-53200975
GRCh38: 12:52807191-52807191
27 KRT4 NM_002272.4(KRT4):c.1417A>T (p.Ser473Cys) SNV Uncertain significance 882762 GRCh37: 12:53200999-53200999
GRCh38: 12:52807215-52807215
28 KRT4 NM_002272.4(KRT4):c.1347-3C>T SNV Uncertain significance 882764 GRCh37: 12:53201180-53201180
GRCh38: 12:52807396-52807396
29 KRT4 NM_002272.4(KRT4):c.1346+15A>T SNV Likely benign 882765 GRCh37: 12:53201413-53201413
GRCh38: 12:52807629-52807629
30 KRT4 NM_002272.4(KRT4):c.1386G>A (p.Val462=) SNV Likely benign 882763 GRCh37: 12:53201030-53201030
GRCh38: 12:52807246-52807246
31 KRT4 NM_002272.4(KRT4):c.801C>T (p.Asp267=) SNV Likely benign 881649 GRCh37: 12:53203200-53203200
GRCh38: 12:52809416-52809416
32 KRT4 NM_002272.4(KRT4):c.954T>C (p.Ile318=) SNV Likely benign 881187 GRCh37: 12:53202515-53202515
GRCh38: 12:52808731-52808731
33 KRT4 NM_002272.4(KRT4):c.359C>A (p.Thr120Asn) SNV Likely benign 881235 GRCh37: 12:53207484-53207484
GRCh38: 12:52813700-52813700
34 KRT4 NM_002272.4(KRT4):c.513G>A (p.Leu171=) SNV Likely benign 309693 rs774677002 GRCh37: 12:53205711-53205711
GRCh38: 12:52811927-52811927
35 KRT4 NM_002272.4(KRT4):c.466C>T (p.Gln156Ter) SNV Likely benign 309696 rs535497819 GRCh37: 12:53205758-53205758
GRCh38: 12:52811974-52811974
36 KRT4 NM_002272.4(KRT4):c.205C>T (p.Arg69Ter) SNV Likely benign 309710 rs200860840 GRCh37: 12:53207638-53207638
GRCh38: 12:52813854-52813854
37 KRT4 NM_002272.4(KRT4):c.1192C>T (p.His398Tyr) SNV Likely benign 309674 rs374654554 GRCh37: 12:53201582-53201582
GRCh38: 12:52807798-52807798
38 KRT4 NM_002272.4(KRT4):c.945C>T (p.Tyr315=) SNV Likely benign 309678 rs778125368 GRCh37: 12:53202524-53202524
GRCh38: 12:52808740-52808740
39 KRT4 NM_002272.4(KRT4):c.1147G>A (p.Val383Met) SNV Likely benign 309675 rs751984023 GRCh37: 12:53201627-53201627
GRCh38: 12:52807843-52807843
40 KRT4 NM_002272.4(KRT4):c.527C>T (p.Thr176Met) SNV Likely benign 309692 rs370759790 GRCh37: 12:53205697-53205697
GRCh38: 12:52811913-52811913
41 KRT4 NM_002272.4(KRT4):c.1204G>A (p.Val402Ile) SNV Likely benign 883554 GRCh37: 12:53201570-53201570
GRCh38: 12:52807786-52807786
42 KRT4 NM_002272.4(KRT4):c.-54A>T SNV Likely benign 309716 rs369760401 GRCh37: 12:53207896-53207896
GRCh38: 12:52814112-52814112
43 KRT4 NM_002272.4(KRT4):c.361C>A (p.Pro121Thr) SNV Benign 883597 GRCh37: 12:53207482-53207482
GRCh38: 12:52813698-52813698
44 KRT4 NM_002272.4(KRT4):c.122G>A (p.Arg41Gln) SNV Benign 309712 rs36143766 GRCh37: 12:53207721-53207721
GRCh38: 12:52813937-52813937
45 KRT4 NM_002272.4(KRT4):c.215C>T (p.Ala72Val) SNV Benign 309709 rs2638525 GRCh37: 12:53207628-53207628
GRCh38: 12:52813844-52813844
46 KRT4 NM_002272.4(KRT4):c.404C>T (p.Thr135Met) SNV Benign 309701 rs17119475 GRCh37: 12:53207439-53207439
GRCh38: 12:52813655-52813655
47 KRT4 NM_002272.4(KRT4):c.1020G>C (p.Ser340=) SNV Benign 309677 rs7956809 GRCh37: 12:53202183-53202183
GRCh38: 12:52808399-52808399
48 KRT4 NM_002272.4(KRT4):c.*30T>A SNV Benign 309665 rs372075566 GRCh37: 12:53200823-53200823
GRCh38: 12:52807039-52807039
49 KRT4 NM_002272.4(KRT4):c.835-4G>T SNV Benign 309681 rs767441876 GRCh37: 12:53202638-53202638
GRCh38: 12:52808854-52808854
50 KRT4 NM_002272.4(KRT4):c.467A>G (p.Gln156Arg) SNV Benign 309695 rs7959052 GRCh37: 12:53205757-53205757
GRCh38: 12:52811973-52811973

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

72
# Symbol AA change Variation ID SNP ID
1 KRT4 p.Glu435Lys VAR_016038 rs62642055

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.95 KRT86 KRT73 KRT6B KRT6A KRT4 KRT39
2 12.16 KRT6B KRT6A KRT4 KRT13
3 11.86 KRT39 KRT33B KRT33A KRT28 KRT13
4
Show member pathways
11.86 KRT86 KRT73 KRT6B KRT6A KRT4 KRT39
5
Show member pathways
11.67 SYNM KRT6A KRT4 KRT2 KRT13 KRT1
6 11.64 KRT39 KRT33B KRT33A KRT28 KRT13

GO Terms for White Sponge Nevus 1

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.97 SYNC KRT86 KRT73 KRT6B KRT6A KRT4
2 extracellular exosome GO:0070062 9.92 KRT73 KRT6B KRT6A KRT33B KRT28 KRT2
3 extracellular space GO:0005615 9.91 PRR4 KRTDAP KRT86 KRT33B KRT33A KRT2
4 keratin filament GO:0045095 9.56 KRT86 KRT73 KRT6B KRT6A KRT4 KRT2
5 intermediate filament GO:0005882 9.47 SYNM SYNC KRT86 KRT73 KRT6B KRT6A
6 intermediate filament cytoskeleton GO:0045111 9.43 SYNM KRT4 KRT13
7 cornified envelope GO:0001533 9.4 KRT2 KRT1

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

# Name GO ID Score Top Affiliating Genes
1 cornification GO:0070268 9.73 KRT86 KRT73 KRT6B KRT6A KRT4 KRT39
2 cytoskeleton organization GO:0007010 9.46 KRT6B KRT6A KRT4 KRT13
3 keratinization GO:0031424 9.4 KRT86 KRT73 KRT6B KRT6A KRT4 KRT39
4 retina homeostasis GO:0001895 9.32 PRR4 KRT1
5 peptide cross-linking GO:0018149 9.26 KRT2 KRT1

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.26 SYNM KRT6B KRT6A KRT2
2 structural constituent of epidermis GO:0030280 9.16 KRT2 KRT1
3 structural molecule activity GO:0005198 9.02 KRT39 KRT33B KRT33A KRT28 KRT13

Sources for White Sponge Nevus 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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