White Sponge Nevus 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

WSN1 MCID: WHT013 MIFTS: 45	White Sponge Nevus 1 (WSN1) Categories: Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for White Sponge Nevus 1

MalaCards integrated aliases for White Sponge Nevus 1:

Name: White Sponge Nevus 1 ⁵⁸ ⁷⁶ ⁷⁴

White Sponge Nevus of Cannon ⁵⁸ ¹² ⁵⁴ ²⁶ ⁶⁰ ⁷⁶ ³⁰ ⁶ ⁴¹

White Sponge Nevus ¹² ⁷⁷ ²⁶ ⁶⁰ ³⁸ ¹³

Leukokeratosis, Hereditary Mucosal ⁵⁸ ⁵⁴ ²⁶ ⁴⁵ ⁷⁴

Hereditary Mucosal Leukokeratosis ¹² ²⁶ ⁶⁰ ⁷⁶ ¹⁵

Wsn1 ⁵⁸ ⁷⁶

Wsn ⁵⁴ ²⁶

Familial White Folded Mucosal Dysplasia ²⁶

White Folded Gingivostomatosis ²⁶

Leukokeratosis of Oral Mucosa ²⁶

White Sponge Nevus of Mucosa ²⁶

Hereditary Leukokeratosis ²⁶

Hereditary Oral Keratosis ²⁶

White Gingivostomatitis ²⁶

White Sponge Naevus ²⁶

Cannon's Disease ²⁶

Nevus of Cannon ²⁶

Characteristics:

Orphanet epidemiological data:

⁶⁰

white sponge nevus
Inheritance: Autosomal dominant;

OMIM:

⁵⁸

Inheritance:
autosomal dominant

HPO:

³³

white sponge nevus 1:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations of the digestive system

Other congenital malformations of tongue, mouth and pharynx

Other congenital malformations of mouth

Orphanet: ⁶⁰

Rare skin diseases

External Ids:

Disease Ontology ¹² DOID:0050448

OMIM ⁵⁸ 193900

KEGG ³⁸ H00724

MeSH ⁴⁵ D053529

NCIt ⁵¹ C84760

SNOMED-CT ⁶⁹ 62953009 85388002

ICD10 via Orphanet ³⁵ Q38.6

UMLS via Orphanet ⁷⁵ C1721005

Orphanet ⁶⁰ ORPHA171723

MedGen ⁴³ C1721005 C4011926

SNOMED-CT via HPO ⁷⁰ 263681008 414603003 9187004

UMLS ⁷⁴ C1721005 C4011926

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Summaries for White Sponge Nevus 1

OMIM : ⁵⁸ 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)

MalaCards based summary : White Sponge Nevus 1, also known as white sponge nevus of cannon, is related to leukoplakia and pachyonychia congenita 1. An important gene associated with White Sponge Nevus 1 is KRT4 (Keratin 4), and among its related pathways/superpathways are Developmental Biology and Circadian entrainment. Affiliated tissues include skin, tongue and kidney, 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.

Genetics Home Reference : ²⁶ 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.

NIH Rare Diseases : ⁵⁴ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 171723Disease definitionWhite 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.Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : ⁷⁶ 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 : ⁷⁷ White sponge nevus WSN, is an autosomal dominant condition of the oral mucosa (the mucous membrane... more...

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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 106)

#	Related Disease	Score	Top Affiliating Genes
1	leukoplakia	30.3	KRT1 KRT13 KRT4
2	pachyonychia congenita 1	29.7	KRT10 KRT16 KRT2 KRT6A KRT6B
3	white sponge nevus 2	12.9
4	dyskeratosis, hereditary benign intraepithelial	11.7
5	waisman syndrome	11.3
6	early-onset parkinsonism-intellectual disability syndrome	11.1
7	glossitis	10.4	KRT6A KRT6B
8	fissured tongue	10.3	KRT16 KRT6A
9	acanthoma	10.3	KRT1 KRT10
10	epidermolytic acanthoma	10.3	KRT1 KRT10
11	steatocystoma multiplex	10.3	KRT10 KRT16
12	erythroderma, ichthyosiform, congenital reticular	10.3	KRT1 KRT10
13	ichthyosis, cyclic, with epidermolytic hyperkeratosis	10.3	KRT1 KRT10
14	discoid lupus erythematosus	10.2	KRT10 KRT16
15	palmoplantar keratoderma, nonepidermolytic	10.2	KRT1 KRT16
16	filamentary keratitis	10.2	KRT1 KRT10
17	autosomal dominant epidermolytic ichthyosis	10.2	KRT1 KRT10
18	influenza	10.2
19	median rhomboid glossitis	10.2	KRT16 KRT6A KRT6B
20	cholesteatoma of middle ear	10.2	KRT10 KRT13 KRT16
21	lichen planus	10.2	KRT10 KRT13 KRT16
22	basal cell carcinoma, infundibulocystic	10.2	KRT10 KRT14
23	ichthyosis	10.2	KRT1 KRT10 KRT2
24	ichthyosis bullosa of siemens	10.2	KRT1 KRT10 KRT2
25	breast squamous cell carcinoma	10.1	KRT10 KRT14
26	hard palate cancer	10.1	KRT14 KRT4
27	epidermolysis bullosa simplex with mottled pigmentation	10.1	KRT10 KRT14
28	vulvar disease	10.1	KRT13 KRT7
29	epidermolysis bullosa simplex, dowling-meara type	10.1	KRT10 KRT14
30	chronic cystitis	10.1	KRT13 KRT7
31	predominantly cortical thymoma	10.1	KRT14 KRT19
32	hidradenitis suppurativa	10.0	KRT10 KRT14
33	vulvar intraepithelial neoplasia	10.0	KRT10 KRT7
34	coloboma of macula	10.0
35	hidradenitis	10.0	KRT10 KRT14
36	nodular hidradenoma	10.0	KRT10 KRT7
37	monilethrix	10.0	KRT16 KRT2 KRT6A KRT86
38	vesiculobullous skin disease	10.0	KRT14 PLEC
39	embryoma	10.0	KRT14 KRT19
40	cervical clear cell adenocarcinoma	10.0	KRT14 KRT19
41	odontoma	10.0	KRT14 KRT19
42	malignant biphasic mesothelioma	10.0	KRT10 KRT7
43	ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1	10.0
44	nevus, epidermal	10.0
45	pachyonychia congenita 3	10.0
46	woolly hair syndrome	10.0
47	gastric squamous cell carcinoma	10.0	KRT10 KRT7
48	skin benign neoplasm	10.0	KRT1 KRT13 KRT14
49	eccrine sweat gland neoplasm	10.0	KRT10 KRT7
50	intrahepatic bile duct adenoma	10.0	KRT19 KRT7

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

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Symptoms & Phenotypes for White Sponge Nevus 1

Human phenotypes related to White Sponge Nevus 1:

³³

#	Description	HPO Frequency	HPO Source Accession
1	abnormality of metabolism/homeostasis ³³		HP:0001939
2	oral leukoplakia ³³		HP:0002745

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

MGI Mouse Phenotypes related to White Sponge Nevus 1:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	digestive/alimentary	MP:0005381	9.43	CCNE1 KRT14 KRT16 KRT19 KRT4 KRT6B
2	integument	MP:0010771	9.23	CCNE1 KRT1 KRT14 KRT16 KRT19 KRT4

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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

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Genetic Tests for White Sponge Nevus 1

Genetic tests related to White Sponge Nevus 1:

#	Genetic test	Affiliating Genes
1	White Sponge Nevus of Cannon ³⁰	KRT4

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Anatomical Context for White Sponge Nevus 1

MalaCards organs/tissues related to White Sponge Nevus 1:

⁴²

Skin, Tongue, Kidney, Tonsil, Thymus

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Publications for White Sponge Nevus 1

Articles related to White Sponge Nevus 1:

(show all 15)

#	Title	Authors	Year
1	Clinical features and molecular genetic analysis in a Turkish family with oral white sponge nevus. ( 29476668 )	K?rkl? E...McLean WH	2018
2	Keratin 4 regulates the development of human white sponge nevus. ( 29738605 )	Zhang J...Zhang X	2018
3	Mutation of keratin 4 gene causing white sponge nevus in a Japanese family. ( 23182699 )	Kimura M...Warnakulasuriya S	2013
4	White sponge nevus in a patient with EEC syndrome. ( 20492824 )	Dalben GS...Consolaro A	2010
5	Woolly hair nevus with an ipsilateral associated epidermal nevus and additional findings of a white sponge nevus. ( 20199427 )	Legler A...Zlotoff B	2010
6	Two new mutations in the keratin 4 gene causing oral white sponge nevus in Chinese family. ( 18992023 )	Zhang JM...Zhang LF	2009
7	Identification of a Keratin 4 mutation in a chemically induced mouse mutant that models white sponge nevus. ( 16858417 )	McGowan KA...Barsh GS	2007
8	Constitutional mutation of keratin 13 gene in familial white sponge nevus. ( 14600690 )	Shibuya Y...Komori T	2003
9	A novel mutation in the keratin 4 gene causing white sponge naevus. ( 12828738 )	Chao SC...Lee JY	2003
10	A novel mutation in the keratin 13 gene causing oral white sponge nevus. ( 11379896 )	Terrinoni A...McLean WH	2001
11	A glutamine insertion in the 1A alpha helical domain of the keratin 4 gene in a familial case of white sponge nevus. ( 10652003 )	Terrinoni A...Melino G	2000
12	Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus. ( 7493031 )	Richard G...Compton JG	1995
13	A mutation in the mucosal keratin K4 is associated with oral white sponge nevus. ( 7493030 )	Rugg EL...Munro CS	1995
14	Expression of keratin 14 and 19 mRNA and protein in normal oral epithelia, hairy leukoplakia, tongue biting and white sponge nevus. ( 7686226 )	Su L...Lane EB	1993
15	Four hereditary mucosal syndromes: comparative histology and exfoliative cytology of Darier-White's disease, hereditary benign intraepithelial dyskeratosis, white sponge nevus, and pachyonychia congenita. ( 14007732 )	WITKOP CJ...GORLIN RJ	1961

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Genes for White Sponge Nevus 1

Genes related to White Sponge Nevus 1 (2 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KRT4	Keratin 4	Protein Coding	1686.1	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	7493030 10652003 12828738
2	KRT13	Keratin 13	Protein Coding	367.91	Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵
3	KRT2	Keratin 2	Protein Coding	16.66	DISEASES inferred ¹⁵
4	KRT6A	Keratin 6A	Protein Coding	16.24	DISEASES inferred ¹⁵
5	KRT86	Keratin 86	Protein Coding	15.68	DISEASES inferred ¹⁵
6	KRT6B	Keratin 6B	Protein Coding	15.38	DISEASES inferred ¹⁵
7	KRT10	Keratin 10	Protein Coding	15.26	DISEASES inferred ¹⁵
8	KRT16	Keratin 16	Protein Coding	14.81	DISEASES inferred ¹⁵
9	KRT1	Keratin 1	Protein Coding	14.64	DISEASES inferred ¹⁵
10	PLEC	Plectin	Protein Coding	14.53	DISEASES inferred ¹⁵
11	CCNE1	Cyclin E1	Protein Coding	14.17	DISEASES inferred ¹⁵
12	KRT14	Keratin 14	Protein Coding	13.97	DISEASES inferred ¹⁵
13	KRT7	Keratin 7	Protein Coding	13.23	DISEASES inferred ¹⁵
14	KRT19	Keratin 19	Protein Coding	3.25	DISEASES inferred ¹⁵

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Variations for White Sponge Nevus 1

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

⁷⁶

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

ClinVar genetic disease variations for White Sponge Nevus 1:

⁶ (show top 50) (show all 206)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	KRT4	NM_002272.3(KRT4): c.438_440delCAA (p.Asn146del)	deletion	Pathogenic	rs587776844	GRCh37	Chromosome 12, 53207403: 53207405
2	KRT4	NM_002272.3(KRT4): c.438_440delCAA (p.Asn146del)	deletion	Pathogenic	rs587776844	GRCh38	Chromosome 12, 52813619: 52813621
3	KRT4	NM_002272.3(KRT4): c.419_420insCAA (p.Gln140delinsHisLys)	insertion	Pathogenic	rs587776845	GRCh37	Chromosome 12, 53207423: 53207424
4	KRT4	NM_002272.3(KRT4): c.419_420insCAA (p.Gln140delinsHisLys)	insertion	Pathogenic	rs587776845	GRCh38	Chromosome 12, 52813639: 52813640
5	KRT4	NM_002272.3(KRT4): c.1303G> A (p.Glu435Lys)	single nucleotide variant	Pathogenic	rs62642055	GRCh37	Chromosome 12, 53201471: 53201471
6	KRT4	NM_002272.3(KRT4): c.1303G> A (p.Glu435Lys)	single nucleotide variant	Pathogenic	rs62642055	GRCh38	Chromosome 12, 52807687: 52807687
7	KRT4	NM_002272.3(KRT4): c.*269A> G	single nucleotide variant	Benign	rs2035879	GRCh37	Chromosome 12, 53200584: 53200584
8	KRT4	NM_002272.3(KRT4): c.*269A> G	single nucleotide variant	Benign	rs2035879	GRCh38	Chromosome 12, 52806800: 52806800
9	KRT4	NM_002272.3(KRT4): c.1203C> T (p.Arg401=)	single nucleotide variant	Likely benign	rs199607128	GRCh37	Chromosome 12, 53201571: 53201571
10	KRT4	NM_002272.3(KRT4): c.1203C> T (p.Arg401=)	single nucleotide variant	Likely benign	rs199607128	GRCh38	Chromosome 12, 52807787: 52807787
11	KRT4	NM_002272.3(KRT4): c.870G> A (p.Thr290=)	single nucleotide variant	Likely benign	rs189596654	GRCh37	Chromosome 12, 53202599: 53202599
12	KRT4	NM_002272.3(KRT4): c.870G> A (p.Thr290=)	single nucleotide variant	Likely benign	rs189596654	GRCh38	Chromosome 12, 52808815: 52808815
13	KRT4	NM_002272.3(KRT4): c.726G> A (p.Val242=)	single nucleotide variant	Uncertain significance	rs886049641	GRCh37	Chromosome 12, 53204552: 53204552
14	KRT4	NM_002272.3(KRT4): c.726G> A (p.Val242=)	single nucleotide variant	Uncertain significance	rs886049641	GRCh38	Chromosome 12, 52810768: 52810768
15	KRT4	NM_002272.3(KRT4): c.678-10C> T	single nucleotide variant	Uncertain significance	rs777722293	GRCh38	Chromosome 12, 52810826: 52810826
16	KRT4	NM_002272.3(KRT4): c.678-10C> T	single nucleotide variant	Uncertain significance	rs777722293	GRCh37	Chromosome 12, 53204610: 53204610
17	KRT4	NM_002272.3(KRT4): c.677+4C> T	single nucleotide variant	Uncertain significance	rs886049642	GRCh38	Chromosome 12, 52811759: 52811759
18	KRT4	NM_002272.3(KRT4): c.677+4C> T	single nucleotide variant	Uncertain significance	rs886049642	GRCh37	Chromosome 12, 53205543: 53205543
19	KRT4	NM_002272.3(KRT4): c.548A> G (p.Asn183Ser)	single nucleotide variant	Likely benign	rs199768158	GRCh38	Chromosome 12, 52811892: 52811892
20	KRT4	NM_002272.3(KRT4): c.548A> G (p.Asn183Ser)	single nucleotide variant	Likely benign	rs199768158	GRCh37	Chromosome 12, 53205676: 53205676
21	KRT4	NM_002272.3(KRT4): c.463-9T> C	single nucleotide variant	Uncertain significance	rs886049643	GRCh38	Chromosome 12, 52811986: 52811986
22	KRT4	NM_002272.3(KRT4): c.463-9T> C	single nucleotide variant	Uncertain significance	rs886049643	GRCh37	Chromosome 12, 53205770: 53205770
23	KRT4	NM_002272.3(KRT4): c.457G> A (p.Asp153Asn)	single nucleotide variant	Uncertain significance	rs780754412	GRCh38	Chromosome 12, 52813602: 52813602
24	KRT4	NM_002272.3(KRT4): c.457G> A (p.Asp153Asn)	single nucleotide variant	Uncertain significance	rs780754412	GRCh37	Chromosome 12, 53207386: 53207386
25	KRT4	NM_002272.3(KRT4): c.456C> T (p.Ile152=)	single nucleotide variant	Likely benign	rs140582332	GRCh38	Chromosome 12, 52813603: 52813603
26	KRT4	NM_002272.3(KRT4): c.456C> T (p.Ile152=)	single nucleotide variant	Likely benign	rs140582332	GRCh37	Chromosome 12, 53207387: 53207387
27	KRT4	NM_002272.3(KRT4): c.364C> G (p.Leu122Val)	single nucleotide variant	Uncertain significance	rs758695571	GRCh38	Chromosome 12, 52813695: 52813695
28	KRT4	NM_002272.3(KRT4): c.364C> G (p.Leu122Val)	single nucleotide variant	Uncertain significance	rs758695571	GRCh37	Chromosome 12, 53207479: 53207479
29	KRT4	NM_002272.3(KRT4): c.306C> T (p.Pro102=)	single nucleotide variant	Uncertain significance	rs373594963	GRCh38	Chromosome 12, 52813753: 52813753
30	KRT4	NM_002272.3(KRT4): c.306C> T (p.Pro102=)	single nucleotide variant	Uncertain significance	rs373594963	GRCh37	Chromosome 12, 53207537: 53207537
31	KRT4	NM_002272.3(KRT4): c.-51G> A	single nucleotide variant	Likely benign	rs531951809	GRCh37	Chromosome 12, 53207893: 53207893
32	KRT4	NM_002272.3(KRT4): c.-51G> A	single nucleotide variant	Likely benign	rs531951809	GRCh38	Chromosome 12, 52814109: 52814109
33	KRT4	NM_002272.3(KRT4): c.*405G> A	single nucleotide variant	Uncertain significance	rs886049638	GRCh38	Chromosome 12, 52806664: 52806664
34	KRT4	NM_002272.3(KRT4): c.*405G> A	single nucleotide variant	Uncertain significance	rs886049638	GRCh37	Chromosome 12, 53200448: 53200448
35	KRT4	NM_002272.3(KRT4): c.*126C> A	single nucleotide variant	Uncertain significance	rs886049640	GRCh38	Chromosome 12, 52806943: 52806943
36	KRT4	NM_002272.3(KRT4): c.*126C> A	single nucleotide variant	Uncertain significance	rs886049640	GRCh37	Chromosome 12, 53200727: 53200727
37	KRT4	NM_002272.3(KRT4): c.*81T> A	single nucleotide variant	Likely benign	rs572216995	GRCh38	Chromosome 12, 52806988: 52806988
38	KRT4	NM_002272.3(KRT4): c.*81T> A	single nucleotide variant	Likely benign	rs572216995	GRCh37	Chromosome 12, 53200772: 53200772
39	KRT4	NM_002272.3(KRT4): c.1512C> A (p.Gly504=)	single nucleotide variant	Likely benign	rs573971498	GRCh37	Chromosome 12, 53200904: 53200904
40	KRT4	NM_002272.3(KRT4): c.1512C> A (p.Gly504=)	single nucleotide variant	Likely benign	rs573971498	GRCh38	Chromosome 12, 52807120: 52807120
41	KRT4	NM_002272.3(KRT4): c.1495G> C (p.Gly499Arg)	single nucleotide variant	Likely benign	rs190897990	GRCh37	Chromosome 12, 53200921: 53200921
42	KRT4	NM_002272.3(KRT4): c.1495G> C (p.Gly499Arg)	single nucleotide variant	Likely benign	rs190897990	GRCh38	Chromosome 12, 52807137: 52807137
43	KRT4	NM_002272.3(KRT4): c.1493T> C (p.Phe498Ser)	single nucleotide variant	Likely benign	rs377399080	GRCh37	Chromosome 12, 53200923: 53200923
44	KRT4	NM_002272.3(KRT4): c.1493T> C (p.Phe498Ser)	single nucleotide variant	Likely benign	rs377399080	GRCh38	Chromosome 12, 52807139: 52807139
45	KRT4	NM_002272.3(KRT4): c.1381+15C> T	single nucleotide variant	Benign	rs7952923	GRCh37	Chromosome 12, 53201128: 53201128
46	KRT4	NM_002272.3(KRT4): c.1381+15C> T	single nucleotide variant	Benign	rs7952923	GRCh38	Chromosome 12, 52807344: 52807344
47	KRT4	NM_002272.3(KRT4): c.1346+15A> G	single nucleotide variant	Benign	rs931479	GRCh37	Chromosome 12, 53201413: 53201413
48	KRT4	NM_002272.3(KRT4): c.1346+15A> G	single nucleotide variant	Benign	rs931479	GRCh38	Chromosome 12, 52807629: 52807629
49	KRT4	NM_002272.3(KRT4): c.1259G> A (p.Arg420His)	single nucleotide variant	Uncertain significance	rs377329227	GRCh37	Chromosome 12, 53201515: 53201515
50	KRT4	NM_002272.3(KRT4): c.1259G> A (p.Arg420His)	single nucleotide variant	Uncertain significance	rs377329227	GRCh38	Chromosome 12, 52807731: 52807731

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Expression for White Sponge Nevus 1

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

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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	Developmental Biology ⁶⁷ Show member pathways Axon guidance ⁶⁷	13.15	KRT1 KRT10 KRT13 KRT14 KRT16 KRT19
2	Circadian entrainment ³⁸ Show member pathways Cholinergic synapse ³⁸ Dopaminergic synapse ³⁸ Estrogen signaling pathway ³⁸ Glutamatergic synapse ³⁸ Relaxin receptors ⁶⁷ Relaxin signaling pathway ³⁸ Synaptic Neurotransmission Pathways: Glutamatergic Excitation ⁶⁶	12.59	KRT10 KRT13 KRT14 KRT16 KRT19
3	Cytoskeletal Signaling ⁴	12.35	KRT10 KRT13 KRT19 KRT4 KRT6A KRT6B
4	Keratinization ⁶⁷ Show member pathways Formation of the cornified envelope ⁶⁷	12.19	KRT1 KRT10 KRT13 KRT14 KRT16 KRT19
5	Cytoskeleton remodeling Neurofilaments ²³ Show member pathways Cytoskeleton remodeling Keratin filaments ²³	11.36	KRT1 KRT13 KRT14 KRT16 KRT19 KRT2

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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	intermediate filament	GO:0005882	9.77	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	9.28	KRT1 KRT13 KRT14 KRT2 KRT4 KRT6A
6	extracellular exosome	GO:0070062	10	KRT1 KRT10 KRT13 KRT14 KRT16 KRT19
7	cytosol	GO:0005829	10	CCNE1 KRT1 KRT10 KRT13 KRT14 KRT16

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	cornification	GO:0070268	9.73	KRT1 KRT10 KRT13 KRT14 KRT16 KRT19
2	epidermis development	GO:0008544	9.61	KRT14 KRT16 KRT2
3	cytoskeleton organization	GO:0007010	9.55	KRT13 KRT16 KRT4 KRT6A KRT6B
4	intermediate filament cytoskeleton organization	GO:0045104	9.51	KRT16 PLEC
5	peptide cross-linking	GO:0018149	9.5	KRT1 KRT10 KRT2
6	morphogenesis of an epithelium	GO:0002009	9.49	KRT16 KRT6A
7	establishment of skin barrier	GO:0061436	9.48	KRT1 KRT16
8	hair cycle	GO:0042633	9.46	KRT14 KRT16
9	hemidesmosome assembly	GO:0031581	9.4	KRT14 PLEC
10	keratinization	GO:0031424	9.4	KRT1 KRT10 KRT13 KRT14 KRT16 KRT19
11	keratinocyte migration	GO:0051546	9.37	KRT16 KRT2
12	positive regulation of epidermis development	GO:0045684	9.26	KRT10 KRT2

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	9.5	KRT14 KRT16 KRT19 KRT2 KRT6A KRT6B
2	structural constituent of epidermis	GO:0030280	9.33	KRT1 KRT10 KRT2
3	structural molecule activity	GO:0005198	9.17	KRT1 KRT10 KRT13 KRT16 KRT2 KRT6A
4	protein binding	GO:0005515	10.07	CCNE1 KRT1 KRT13 KRT14 KRT16 KRT19

Sources

Sources for White Sponge Nevus 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

White Sponge Nevus 1 (WSN1)

Aliases & Classifications for White Sponge Nevus 1

MalaCards integrated aliases for White Sponge Nevus 1:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for White Sponge Nevus 1

Related Diseases for White Sponge Nevus 1

Diseases in the White Sponge Nevus 1 family:

Diseases related to White Sponge Nevus 1 via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for White Sponge Nevus 1

Human phenotypes related to White Sponge Nevus 1:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to White Sponge Nevus 1:

Drugs & Therapeutics 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:

Anatomical Context for White Sponge Nevus 1

MalaCards organs/tissues related to White Sponge Nevus 1:

Publications for White Sponge Nevus 1

Articles related to White Sponge Nevus 1:

Genes for White Sponge Nevus 1

Genes related to White Sponge Nevus 1 (2 elite genes):

Variations for White Sponge Nevus 1

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

ClinVar genetic disease variations for White Sponge Nevus 1:

Expression for White Sponge Nevus 1

Pathways for White Sponge Nevus 1

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

GO Terms for White Sponge Nevus 1

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

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

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

Sources for White Sponge Nevus 1