WSN1
MCID: WHT013
MIFTS: 45

White Sponge Nevus 1 (WSN1)

Categories: Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for White Sponge Nevus 1

MalaCards integrated aliases for White Sponge Nevus 1:

Name: White Sponge Nevus 1 57 73 28 5 71
White Sponge Nevus of Cannon 57 11 19 42 58 73
Leukokeratosis, Hereditary Mucosal 57 19 42 43 71
Hereditary Mucosal Leukokeratosis 11 42 58 73 14
White Sponge Nevus 11 42 58 75 12
Wsn1 57 73
Wsn 19 42
Familial White Folded Mucosal Dysplasia 42
White Folded Gingivostomatosis 42
Leukokeratosis of Oral Mucosa 42
White Sponge Nevus of Mucosa 42
Hereditary Leukokeratosis 42
Hereditary Oral Keratosis 42
White Gingivostomatitis 42
White Sponge Naevus 42
Cannon's Disease 42
Nevus of Cannon 42

Characteristics:


Inheritance:

White Sponge Nevus 1: Autosomal dominant 57
White Sponge Nevus: Autosomal dominant 58

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 11 DOID:0050448
OMIM® 57 193900
OMIM Phenotypic Series 57 PS193900
MeSH 43 D053529
NCIt 49 C84760
SNOMED-CT 68 85388002
ICD10 via Orphanet 32 Q38.6
UMLS via Orphanet 72 C1721005
Orphanet 58 ORPHA171723
SNOMED-CT via HPO 69 414603003 9187004
UMLS 71 C1721005 C4011926

Summaries for White Sponge Nevus 1

MedlinePlus Genetics: 42 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 keratosis. An important gene associated with White Sponge Nevus 1 is KRT4 (Keratin 4), and among its related pathways/superpathways are Nervous system development and COPI-independent Golgi-to-ER retrograde traffic. Affiliated tissues include tongue and skin, and related phenotypes are abnormality of metabolism/homeostasis and oral leukoplakia

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 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

GARD: 19 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.

Orphanet: 58 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.

Disease Ontology: 11 A skin disease characterized by a defect in the normal process of keratinization of the mucosa.

Wikipedia: 75 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 95)
# Related Disease Score Top Affiliating Genes
1 leukoplakia 30.6 KRT4 KRT13 KRT1
2 keratosis 29.6 KRT86 KRT14 KRT1
3 familial woolly hair syndrome 29.5 KRT86 KRT85 KRT74 KRT73 KRT6A
4 papilloma 29.5 KRT14 KRT13 KRT1
5 epidermolytic hyperkeratosis 28.5 KRT86 KRT6B KRT6A KRT40 KRT4 KRT39
6 pachyonychia congenita 1 28.2 KRT86 KRT82 KRT74 KRT6B KRT6A KRT40
7 white sponge nevus 2 11.7
8 dyskeratosis, hereditary benign intraepithelial 11.3
9 waisman syndrome 11.2
10 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.6
11 influenza 10.5
12 oral squamous cell carcinoma 10.3
13 focal palmoplantar keratoderma 10.2 KRT6B KRT6A
14 median rhomboid glossitis 10.2 KRT6B KRT6A
15 glossitis 10.2 KRT6B KRT6A
16 prostate squamous cell carcinoma 10.2 KRT4 KRT32
17 palmoplantar keratoderma, nonepidermolytic, focal or diffuse 10.2 KRT6B KRT6A
18 darier-white disease 10.2
19 focal epithelial hyperplasia 10.2
20 palmoplantar keratoderma, nonepidermolytic 10.1 KRT6A KRT1
21 avian influenza 10.1
22 epithelial and subepithelial dystrophy 10.1 SYNC KRT82
23 epidermolytic acanthoma 10.1 KRT2 KRT1
24 ichthyosis bullosa of siemens 10.1 KRT2 KRT1
25 atrichia with papular lesions 10.1 KRT86 KRT74
26 coloboma, ocular, autosomal dominant 10.1
27 coloboma of macula 10.1
28 coloboma of iris 10.1
29 hypophosphatasia, adult 10.1
30 hypophosphatasia, infantile 10.1
31 swine influenza 10.1
32 respiratory failure 10.1
33 pulmonary edema 10.1
34 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.0
35 systemic lupus erythematosus 10.0
36 nevus, epidermal 10.0
37 split-hand/foot malformation 1 10.0
38 woolly hair, hypotrichosis, everted lower lip, and outstanding ears 10.0
39 systemic lupus erythematosus 1 10.0
40 basal cell carcinoma 1 10.0
41 pachyonychia congenita 3 10.0
42 tooth agenesis 10.0
43 oral hairy leukoplakia 10.0
44 split hand-foot malformation 10.0
45 anogenital venereal wart 10.0
46 oral candidiasis 10.0
47 candidiasis 10.0
48 ectodermal dysplasia 10.0
49 cleft lip 10.0
50 intrinsic asthma 10.0

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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 30 HP:0001939
2 oral leukoplakia 30 HP:0002745

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.13 KRT1 KRT13 KRT14 KRT2 KRT32 KRT39
2 no effect GR00402-S-2 10.13 KRT1 KRT13 KRT14 KRT2 KRT32 KRT4

MGI Mouse Phenotypes related to White Sponge Nevus 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.1 KRT13 KRT14 KRT2 KRT4 KRT6A KRT6B

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 28 KRT4

Anatomical Context for White Sponge Nevus 1

Organs/tissues related to White Sponge Nevus 1:

MalaCards : Tongue, Skin

Publications for White Sponge Nevus 1

Articles related to White Sponge Nevus 1:

(show top 50) (show all 161)
# 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. 62 57 5
10652003 2000
2
A mutation in the mucosal keratin K4 is associated with oral white sponge nevus. 62 57 5
7493030 1995
3
A novel mutation in the keratin 4 gene causing white sponge naevus. 62 5
12828738 2003
4
Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus. 62 57
7493031 1995
5
White sponge nevus. 62 57
7469444 1981
6
Ultrastructure of the white sponge nevus. 62 57
52856 1975
7
The electron microscopic examination of congenital keratoses of the oral mucous membranes. I. White sponge nevus. 62 57
5261909 1970
8
White sponge naevus of the mucosa: clinical and linkage data. 62 57
5779421 1969
9
Hereditary leukokeratosis of the mucous membranes. 62 57
5675990 1968
10
Hereditary leukokeratosis, white mouth. 62 57
5910766 1966
11
Four hereditary mucosal syndromes: comparative histology and exfoliative cytology of Darier-White's disease, hereditary benign intraepithelial dyskeratosis, white sponge nevus, and pachyonychia congenita. 62 57
14007732 1961
12
Hereditary mucosal keratosis. 57
6042731 1967
13
Case of penile white sponge nevus repeatedly treated as genital wart. 62
35523575 2022
14
White Sponge Nevus of Glans Penis. 62
33657890 2022
15
Phenotypic reflection of white sponge nevus in histomorphological features of oral squamous cell carcinoma. 62
35007880 2022
16
White sponge naevus: an uncommon oral white lesion. 62
34844967 2021
17
Successful Treatment of White Sponge Nevus With Oral Doxycycline: A Case Report and Review of the Literature. 62
33220312 2021
18
A Case of Non-hereditary White Sponge Nevus in the Oral Cavity Successfully Treated with Tetracycline Ointment and Oral Multivitamins. 62
34897171 2021
19
Keratin 13 deficiency causes white sponge nevus in mice. 62
32758484 2020
20
[A boy with white sponge naevus of the buccal mucosa]. 62
32940983 2020
21
White sponge nevus in a three-year-old boy: A case report. 62
32705783 2020
22
White sponge nevus: A condition not always clinically suspected. 62
31568560 2020
23
Oral White Sponge Nevus: An Exceptional Differential Diagnosis in Childhood. 62
32908720 2020
24
The molecular-based differentiation of Heck's disease from its mimics including oral condyloma and white sponge nevus. 62
31473371 2019
25
Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management. 62
31090139 2019
26
Frictional Keratosis, Contact Keratosis and Smokeless Tobacco Keratosis: Features of Reactive White Lesions of the Oral Mucosa. 62
30671762 2019
27
Keratin 4 regulates the development of human white sponge nevus. 62
29738605 2018
28
Clinical features and molecular genetic analysis in a Turkish family with oral white sponge nevus. 62
29476668 2018
29
Mutations in the genes for keratin-4 and keratin-13 in Swedish patients with white sponge nevus. 62
29047160 2018
30
A novel keratin 13 variant in a four-generation family with white sponge nevus. 62
28878914 2017
31
White Sponge Nevus: Report of a Case and Review of the Literature. 62
29034652 2017
32
Familiar white sponge nevus. 62
27450170 2017
33
Vulvar white sponge naevus in a girl. 62
25733072 2016
34
White sponge nevus: Report of three cases in a single family. 62
27601826 2016
35
Erratum to: Expression profiling of white sponge nevus by RNA sequencing revealed pathological pathways. 62
26399259 2015
36
Expression profiling of white sponge nevus by RNA sequencing revealed pathological pathways. 62
26062705 2015
37
Current approaches to the diagnosis and treatment of white sponge nevus. 62
26021387 2015
38
Familial Case of White Sponge Nevus - Diagnosis and Therapeutical Challenges. 62
26476912 2015
39
Keratin 13 mutations associated with oral white sponge nevus in two Chinese families. 62
25606422 2014
40
White sponge nevus - a rare autosomal dominant keratinopathy. 62
24810752 2014
41
[Siblings present different clinical manifestations in white sponge nevus]. 62
23991589 2013
42
Carmakila: An effective management by kshara karma. 62
24250149 2013
43
Mutation of keratin 4 gene causing white sponge nevus in a Japanese family. 62
23182699 2013
44
White sponge nevus treated with chlorhexidine. 62
22385147 2012
45
White sponge nevus caused by a missense mutation in the keratin 4 gene. 62
22645290 2012
46
White sponge nevus: clinical suspicion and diagnosis. 62
22352924 2012
47
Familial white sponge nevus of the oral mucosa: report of occurrence in three generations. 62
22532946 2012
48
Oral infection by Staphylococcus aureus in patients affected by White Sponge Nevus: a description of two cases occurred in the same family. 62
22211089 2012
49
Mutational analysis in familial and sporadic patients with white sponge naevus. 62
21561439 2011
50
Familial case of oral white sponge nevus--a rare hereditary condition. 62
22068767 2011

Variations for White Sponge Nevus 1

ClinVar genetic disease variations for White Sponge Nevus 1:

5 (show top 50) (show all 84)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT4 NM_002272.4(KRT4):c.1303G>A (p.Glu435Lys) SNV Pathogenic
16920 rs62642055 GRCh37: 12:53201471-53201471
GRCh38: 12:52807687-52807687
2 KRT4 NM_002272.4(KRT4):c.419_420insCAA (p.Gln140delinsHisLys) INSERT Pathogenic
16919 rs587776845 GRCh37: 12:53207423-53207424
GRCh38: 12:52813639-52813640
3 KRT4 NM_002272.4(KRT4):c.432CAA[2] (p.Asn146del) MICROSAT Pathogenic
16918 rs587776844 GRCh37: 12:53207403-53207405
GRCh38: 12:52813619-52813621
4 KRT4 NM_002272.4(KRT4):c.193G>A (p.Val65Met) SNV Uncertain Significance
881697 rs754420448 GRCh37: 12:53207650-53207650
GRCh38: 12:52813866-52813866
5 KRT4 NM_002272.4(KRT4):c.1072C>G (p.Leu358Val) SNV Uncertain Significance
881185 rs1939839883 GRCh37: 12:53202131-53202131
GRCh38: 12:52808347-52808347
6 KRT4 NM_002272.4(KRT4):c.364C>G (p.Leu122Val) SNV Uncertain Significance
309702 rs758695571 GRCh37: 12:53207479-53207479
GRCh38: 12:52813695-52813695
7 KRT4 NM_002272.4(KRT4):c.834+2T>G SNV Uncertain Significance
631683 rs937464890 GRCh37: 12:53203165-53203165
GRCh38: 12:52809381-52809381
8 KRT4 NM_002272.4(KRT4):c.*496T>G SNV Uncertain Significance
881137 rs753033796 GRCh37: 12:53200357-53200357
GRCh38: 12:52806573-52806573
9 KRT4 NM_002272.4(KRT4):c.1467C>A (p.Gly489=) SNV Uncertain Significance
881603 rs1345230715 GRCh37: 12:53200949-53200949
GRCh38: 12:52807165-52807165
10 KRT4 NM_002272.4(KRT4):c.317C>G (p.Ala106Gly) SNV Uncertain Significance
881236 rs753431318 GRCh37: 12:53207526-53207526
GRCh38: 12:52813742-52813742
11 KRT4 NM_002272.4(KRT4):c.54C>G (p.Gly18=) SNV Uncertain Significance
309713 rs748727199 GRCh37: 12:53207789-53207789
GRCh38: 12:52814005-52814005
12 KRT4 NM_002272.4(KRT4):c.*126C>A SNV Uncertain Significance
309662 rs886049640 GRCh37: 12:53200727-53200727
GRCh38: 12:52806943-52806943
13 KRT4 NM_002272.4(KRT4):c.677+4C>T SNV Uncertain Significance
309688 rs886049642 GRCh37: 12:53205543-53205543
GRCh38: 12:52811759-52811759
14 KRT4 NM_002272.4(KRT4):c.25C>G (p.Arg9Gly) SNV Uncertain Significance
309714 rs886049646 GRCh37: 12:53207818-53207818
GRCh38: 12:52814034-52814034
15 KRT4 NM_002272.4(KRT4):c.*405G>A SNV Uncertain Significance
309658 rs886049638 GRCh37: 12:53200448-53200448
GRCh38: 12:52806664-52806664
16 KRT13 NM_153490.3(KRT13):c.540T>C (p.Ile180=) SNV Uncertain Significance
323097 rs755205284 GRCh37: 17:39659933-39659933
GRCh38: 17:41503681-41503681
17 KRT4 NM_002272.4(KRT4):c.405G>A (p.Thr135=) SNV Uncertain Significance
309700 rs762792489 GRCh37: 12:53207438-53207438
GRCh38: 12:52813654-52813654
18 KRT4 NM_002272.4(KRT4):c.741C>G (p.Asp247Glu) SNV Uncertain Significance
309683 rs369593094 GRCh37: 12:53203260-53203260
GRCh38: 12:52809476-52809476
19 KRT4 NM_002272.4(KRT4):c.353T>G (p.Leu118Trp) SNV Uncertain Significance
309703 rs886049644 GRCh37: 12:53207490-53207490
GRCh38: 12:52813706-52813706
20 KRT4 NM_002272.4(KRT4):c.678-10C>T SNV Uncertain Significance
309686 rs777722293 GRCh37: 12:53204610-53204610
GRCh38: 12:52810826-52810826
21 KRT4 NM_002272.4(KRT4):c.463-9T>C SNV Uncertain Significance
309697 rs886049643 GRCh37: 12:53205770-53205770
GRCh38: 12:52811986-52811986
22 KRT4 NM_002272.4(KRT4):c.457G>A (p.Asp153Asn) SNV Uncertain Significance
309698 rs780754412 GRCh37: 12:53207386-53207386
GRCh38: 12:52813602-52813602
23 KRT4 NM_002272.4(KRT4):c.*289G>A SNV Uncertain Significance
309659 rs886049639 GRCh37: 12:53200564-53200564
GRCh38: 12:52806780-52806780
24 KRT4 NM_002272.4(KRT4):c.726G>A (p.Val242=) SNV Uncertain Significance
309684 rs886049641 GRCh37: 12:53204552-53204552
GRCh38: 12:52810768-52810768
25 KRT4 NM_002272.4(KRT4):c.1347-3C>T SNV Uncertain Significance
882764 rs777376453 GRCh37: 12:53201180-53201180
GRCh38: 12:52807396-52807396
26 KRT4 NM_002272.4(KRT4):c.1417A>T (p.Ser473Cys) SNV Uncertain Significance
882762 rs367751022 GRCh37: 12:53200999-53200999
GRCh38: 12:52807215-52807215
27 KRT4 NM_002272.4(KRT4):c.1441G>A (p.Gly481Arg) SNV Uncertain Significance
882761 rs771250577 GRCh37: 12:53200975-53200975
GRCh38: 12:52807191-52807191
28 KRT4 NM_002272.4(KRT4):c.186C>T (p.Ser62=) SNV Uncertain Significance
309711 rs886049645 GRCh37: 12:53207657-53207657
GRCh38: 12:52813873-52813873
29 KRT4 NM_002272.4(KRT4):c.1386G>A (p.Val462=) SNV Likely Benign
882763 rs373947229 GRCh37: 12:53201030-53201030
GRCh38: 12:52807246-52807246
30 KRT4 NM_002272.4(KRT4):c.205C>T (p.Arg69Ter) SNV Likely Benign
309710 rs200860840 GRCh37: 12:53207638-53207638
GRCh38: 12:52813854-52813854
31 KRT4 NM_002272.4(KRT4):c.945C>T (p.Tyr315=) SNV Likely Benign
309678 rs778125368 GRCh37: 12:53202524-53202524
GRCh38: 12:52808740-52808740
32 KRT4 NM_002272.4(KRT4):c.-54A>T SNV Likely Benign
309716 rs369760401 GRCh37: 12:53207896-53207896
GRCh38: 12:52814112-52814112
33 KRT4 NM_002272.4(KRT4):c.1147G>A (p.Val383Met) SNV Likely Benign
309675 rs751984023 GRCh37: 12:53201627-53201627
GRCh38: 12:52807843-52807843
34 KRT4 NM_002272.4(KRT4):c.527C>T (p.Thr176Met) SNV Likely Benign
309692 rs370759790 GRCh37: 12:53205697-53205697
GRCh38: 12:52811913-52811913
35 KRT4 NM_002272.4(KRT4):c.1192C>T (p.His398Tyr) SNV Likely Benign
309674 rs374654554 GRCh37: 12:53201582-53201582
GRCh38: 12:52807798-52807798
36 KRT4 NM_002272.4(KRT4):c.466C>T (p.Gln156Ter) SNV Likely Benign
309696 rs535497819 GRCh37: 12:53205758-53205758
GRCh38: 12:52811974-52811974
37 KRT4 NM_002272.4(KRT4):c.513G>A (p.Leu171=) SNV Likely Benign
309693 rs774677002 GRCh37: 12:53205711-53205711
GRCh38: 12:52811927-52811927
38 KRT4 NM_002272.4(KRT4):c.1204G>A (p.Val402Ile) SNV Likely Benign
883554 rs772882487 GRCh37: 12:53201570-53201570
GRCh38: 12:52807786-52807786
39 KRT4 NM_002272.4(KRT4):c.359C>A (p.Thr120Asn) SNV Likely Benign
881235 rs201805600 GRCh37: 12:53207484-53207484
GRCh38: 12:52813700-52813700
40 KRT4 NM_002272.4(KRT4):c.954T>C (p.Ile318=) SNV Likely Benign
881187 rs770727989 GRCh37: 12:53202515-53202515
GRCh38: 12:52808731-52808731
41 KRT4 NM_002272.4(KRT4):c.801C>T (p.Asp267=) SNV Likely Benign
881649 rs369207280 GRCh37: 12:53203200-53203200
GRCh38: 12:52809416-52809416
42 KRT4 NM_002272.4(KRT4):c.1346+15A>T SNV Likely Benign
882765 rs931479 GRCh37: 12:53201413-53201413
GRCh38: 12:52807629-52807629
43 KRT4 NM_002272.4(KRT4):c.*269A>G SNV Benign
66516 rs2035879 GRCh37: 12:53200584-53200584
GRCh38: 12:52806800-52806800
44 KRT4 NM_002272.4(KRT4):c.1512C>A (p.Gly504=) SNV Benign
309666 rs573971498 GRCh37: 12:53200904-53200904
GRCh38: 12:52807120-52807120
45 KRT4 NM_002272.4(KRT4):c.983C>T (p.Ala328Val) SNV Benign
881186 rs749943854 GRCh37: 12:53202486-53202486
GRCh38: 12:52808702-52808702
46 KRT4 NM_002272.4(KRT4):c.1258C>T (p.Arg420Cys) SNV Benign
883553 rs192699667 GRCh37: 12:53201516-53201516
GRCh38: 12:52807732-52807732
47 KRT4 NM_002272.4(KRT4):c.361C>A (p.Pro121Thr) SNV Benign
883597 rs200831095 GRCh37: 12:53207482-53207482
GRCh38: 12:52813698-52813698
48 KRT4 NM_002272.4(KRT4):c.678-3C>T SNV Benign
309685 rs73306189 GRCh37: 12:53204603-53204603
GRCh38: 12:52810819-52810819
49 KRT4 NM_002272.4(KRT4):c.548A>G (p.Asn183Ser) SNV Benign
309691 rs199768158 GRCh37: 12:53205676-53205676
GRCh38: 12:52811892-52811892
50 KRT4 NM_002272.4(KRT4):c.404C>T (p.Thr135Met) SNV Benign
309701 rs17119475 GRCh37: 12:53207439-53207439
GRCh38: 12:52813655-52813655

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

73
# 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
13.19 KRT86 KRT85 KRT82 KRT74 KRT73 KRT6B
2
Show member pathways
12.12 KRT6A KRT4 KRT2 KRT14 KRT13 KRT1
3 12.05 KRT6B KRT6A KRT4 KRT13
4
Show member pathways
12.04 KRT86 KRT85 KRT82 KRT74 KRT73 KRT6B

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 10.36 KRT1 KRT13 KRT14 KRT2 KRT32 KRT39
2 intermediate filament GO:0005882 10.02 KRT1 KRT13 KRT14 KRT2 KRT32 KRT39
3 cornified envelope GO:0001533 9.73 KRT2 KRT14 KRT1
4 keratin filament GO:0045095 9.7 KRT1 KRT13 KRT14 KRT2 KRT4 KRT6A

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

# Name GO ID Score Top Affiliating Genes
1 intermediate filament organization GO:0045109 10.13 KRT82 KRT74 KRT73 KRT6B KRT6A KRT40
2 epidermis development GO:0008544 9.96 KRTDAP KRT85 KRT32 KRT2 KRT14
3 epithelial cell differentiation GO:0030855 9.93 KRT40 KRT4 KRT39 KRT32 KRT14 KRT13
4 keratinization GO:0031424 9.62 KRT1 KRT2 KRT4 KRT6A KRT6B KRT73

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 9.76 KRT6B KRT6A KRT2 KRT14
2 structural molecule activity GO:0005198 9.7 KRT13 KRT14 KRT32 KRT39 KRT40 KRT85
3 structural constituent of skin epidermis GO:0030280 9.62 KRT86 KRT85 KRT82 KRT74 KRT73 KRT6B
4 keratin filament binding GO:1990254 9.56 KRT74 KRT14

Sources for White Sponge Nevus 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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