WSN2
MCID: WHT015
MIFTS: 22

White Sponge Nevus 2 (WSN2)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for White Sponge Nevus 2

MalaCards integrated aliases for White Sponge Nevus 2:

Name: White Sponge Nevus 2 57 72 29 6 39 70
Wsn2 57 72

Characteristics:

OMIM®:

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


HPO:

31
white sponge nevus 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 615785
OMIM Phenotypic Series 57 PS193900
MeSH 44 D053529
UMLS 70 C4014321

Summaries for White Sponge Nevus 2

UniProtKB/Swiss-Prot : 72 White sponge nevus 2: 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.

MalaCards based summary : White Sponge Nevus 2, is also known as wsn2. An important gene associated with White Sponge Nevus 2 is KRT13 (Keratin 13). Related phenotypes are edema and epidermal acanthosis

More information from OMIM: 615785 PS193900

Related Diseases for White Sponge Nevus 2

Diseases in the White Sponge Nevus 1 family:

White Sponge Nevus 2

Symptoms & Phenotypes for White Sponge Nevus 2

Human phenotypes related to White Sponge Nevus 2:

31
# Description HPO Frequency HPO Source Accession
1 edema 31 HP:0000969
2 epidermal acanthosis 31 HP:0025092
3 hyperparakeratosis 31 HP:0040009

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin Histology:
hyperparakeratosis
acanthosis
epithelial thickening
intracellular edema of spinous layer
basket-weave appearance of spinous layer
more
Head And Neck Mouth:
white spongy plaques on the buccal, labial, and soft palatal mucosa and gingiva

Abdomen Gastrointestinal:
white spongy plaques on the esophageal mucosa
white spongy plaques on the rectal mucosa

Skin Nails Hair Skin:
asymptomatic soft white spongy mucosal plaques with thick folded surfaces

Head And Neck Nose:
white spongy plaques of nasal mucosa

Respiratory Nasopharynx:
white spongy plaques on the pharyngeal mucosa

Genitourinary Internal Genitalia Female:
white spongy plaques on the vaginal mucosa

Clinical features from OMIM®:

615785 (Updated 20-May-2021)

Drugs & Therapeutics for White Sponge Nevus 2

Search Clinical Trials , NIH Clinical Center for White Sponge Nevus 2

Genetic Tests for White Sponge Nevus 2

Genetic tests related to White Sponge Nevus 2:

# Genetic test Affiliating Genes
1 White Sponge Nevus 2 29 KRT13

Anatomical Context for White Sponge Nevus 2

Publications for White Sponge Nevus 2

Articles related to White Sponge Nevus 2:

# Title Authors PMID Year
1
Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus. 6 57
7493031 1995
2
Constitutional mutation of keratin 13 gene in familial white sponge nevus. 6
14600690 2003
3
Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma. 6
7532199 1995

Variations for White Sponge Nevus 2

ClinVar genetic disease variations for White Sponge Nevus 2:

6 (show top 50) (show all 59)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT13 NM_153490.3(KRT13):c.356T>C (p.Leu119Pro) SNV Pathogenic 14629 rs60440396 GRCh37: 17:39661447-39661447
GRCh38: 17:41505195-41505195
2 KRT13 NM_153490.3(KRT13):c.332T>C (p.Leu111Pro) SNV Pathogenic 66751 rs59897026 GRCh37: 17:39661471-39661471
GRCh38: 17:41505219-41505219
3 KRT13 NM_153490.3(KRT13):c.1273dup (p.Ser425fs) Duplication Pathogenic 753332 rs375760692 GRCh37: 17:39657611-39657612
GRCh38: 17:41501359-41501360
4 KRT13 NM_153490.3(KRT13):c.898-1G>C SNV Pathogenic 1032046 GRCh37: 17:39659065-39659065
GRCh38: 17:41502813-41502813
5 KRT13 NM_153490.3(KRT13):c.*162T>C SNV Uncertain significance 889141 GRCh37: 17:39657346-39657346
GRCh38: 17:41501094-41501094
6 KRT13 NM_153490.3(KRT13):c.*19C>T SNV Uncertain significance 889142 GRCh37: 17:39657489-39657489
GRCh38: 17:41501237-41501237
7 KRT13 NM_153490.3(KRT13):c.1350C>T (p.Arg450=) SNV Uncertain significance 889144 GRCh37: 17:39657535-39657535
GRCh38: 17:41501283-41501283
8 KRT13 NM_153490.3(KRT13):c.1295C>G (p.Ser432Cys) SNV Uncertain significance 889145 GRCh37: 17:39657590-39657590
GRCh38: 17:41501338-41501338
9 KRT13 NM_153490.3(KRT13):c.523C>G (p.Arg175Gly) SNV Uncertain significance 889891 GRCh37: 17:39659950-39659950
GRCh38: 17:41503698-41503698
10 KRT13 NM_153490.3(KRT13):c.853G>A (p.Ala285Thr) SNV Uncertain significance 891625 GRCh37: 17:39659233-39659233
GRCh38: 17:41502981-41502981
11 KRT13 NM_153490.3(KRT13):c.823G>A (p.Ala275Thr) SNV Uncertain significance 891626 GRCh37: 17:39659263-39659263
GRCh38: 17:41503011-41503011
12 KRT13 NM_153490.3(KRT13):c.1220G>A (p.Ser407Asn) SNV Uncertain significance 889825 GRCh37: 17:39658650-39658650
GRCh38: 17:41502398-41502398
13 KRT13 NM_153490.3(KRT13):c.*175G>A SNV Uncertain significance 892506 GRCh37: 17:39657333-39657333
GRCh38: 17:41501081-41501081
14 KRT13 NM_153490.3(KRT13):c.991C>T (p.Leu331=) SNV Uncertain significance 323082 rs771435962 GRCh37: 17:39658971-39658971
GRCh38: 17:41502719-41502719
15 KRT13 NM_153490.3(KRT13):c.337G>A (p.Asp113Asn) SNV Uncertain significance 323105 rs886052908 GRCh37: 17:39661466-39661466
GRCh38: 17:41505214-41505214
16 KRT13 NM_153490.3(KRT13):c.759G>C (p.Gln253His) SNV Uncertain significance 323091 rs766894151 GRCh37: 17:39659327-39659327
GRCh38: 17:41503075-41503075
17 KRT13 NM_153490.3(KRT13):c.*85C>T SNV Uncertain significance 323072 rs886052906 GRCh37: 17:39657423-39657423
GRCh38: 17:41501171-41501171
18 KRT13 NM_153490.3(KRT13):c.*228C>G SNV Uncertain significance 323069 rs574184263 GRCh37: 17:39657280-39657280
GRCh38: 17:41501028-41501028
19 KRT13 NM_153490.3(KRT13):c.*74A>C SNV Uncertain significance 323073 rs886052907 GRCh37: 17:39657434-39657434
GRCh38: 17:41501182-41501182
20 KRT13 NM_153490.3(KRT13):c.496-9A>G SNV Uncertain significance 323099 rs780820686 GRCh37: 17:39659986-39659986
GRCh38: 17:41503734-41503734
21 KRT13 NM_153490.3(KRT13):c.610G>A (p.Val204Met) SNV Likely benign 323095 rs138102206 GRCh37: 17:39659664-39659664
GRCh38: 17:41503412-41503412
22 KRT13 NM_153490.3(KRT13):c.-45C>A SNV Likely benign 323108 rs367712050 GRCh37: 17:39661847-39661847
GRCh38: 17:41505595-41505595
23 KRT13 NM_153490.3(KRT13):c.844G>A (p.Glu282Lys) SNV Likely benign 323086 rs202057977 GRCh37: 17:39659242-39659242
GRCh38: 17:41502990-41502990
24 KRT13 NM_153490.3(KRT13):c.1238A>T (p.Asp413Val) SNV Likely benign 889824 GRCh37: 17:39658632-39658632
GRCh38: 17:41502380-41502380
25 KRT13 NM_153490.3(KRT13):c.9C>T (p.Leu3=) SNV Likely benign 891434 GRCh37: 17:39661794-39661794
GRCh38: 17:41505542-41505542
26 KRT13 NM_153490.3(KRT13):c.291C>T (p.Gly97=) SNV Likely benign 891433 GRCh37: 17:39661512-39661512
GRCh38: 17:41505260-41505260
27 KRT13 NM_153490.3(KRT13):c.637C>T (p.Arg213Trp) SNV Benign 889209 GRCh37: 17:39659637-39659637
GRCh38: 17:41503385-41503385
28 KRT13 NM_153490.3(KRT13):c.1366C>T (p.Arg456Cys) SNV Benign 889143 GRCh37: 17:39657519-39657519
GRCh38: 17:41501267-41501267
29 KRT13 NM_153490.3(KRT13):c.*268C>T SNV Benign 892505 GRCh37: 17:39657240-39657240
GRCh38: 17:41500988-41500988
30 KRT13 NM_153490.3(KRT13):c.*274T>C SNV Benign 892504 GRCh37: 17:39657234-39657234
GRCh38: 17:41500982-41500982
31 KRT13 NM_153490.3(KRT13):c.767G>A (p.Gly256Asp) SNV Benign 323088 rs150947773 GRCh37: 17:39659319-39659319
GRCh38: 17:41503067-41503067
32 KRT13 NM_153490.3(KRT13):c.869G>A (p.Arg290Gln) SNV Benign 323085 rs535020030 GRCh37: 17:39659217-39659217
GRCh38: 17:41502965-41502965
33 KRT13 NM_153490.3(KRT13):c.420C>T (p.His140=) SNV Benign 323102 rs530596803 GRCh37: 17:39661383-39661383
GRCh38: 17:41505131-41505131
34 KRT13 NM_153490.3(KRT13):c.735+6C>T SNV Benign 323094 rs181122697 GRCh37: 17:39659533-39659533
GRCh38: 17:41503281-41503281
35 KRT13 NM_153490.3(KRT13):c.1352G>A (p.Arg451His) SNV Benign 323074 rs550693344 GRCh37: 17:39657533-39657533
GRCh38: 17:41501281-41501281
36 KRT13 NM_153490.3(KRT13):c.*170C>T SNV Benign 323071 rs3169911 GRCh37: 17:39657338-39657338
GRCh38: 17:41501086-41501086
37 KRT13 NM_153490.3(KRT13):c.947C>T (p.Thr316Ile) SNV Benign 323083 rs753928241 GRCh37: 17:39659015-39659015
GRCh38: 17:41502763-41502763
38 KRT13 NM_153490.3(KRT13):c.1227C>T (p.Leu409=) SNV Benign 323077 rs149077503 GRCh37: 17:39658643-39658643
GRCh38: 17:41502391-41502391
39 KRT13 NM_153490.3(KRT13):c.1028C>T (p.Ala343Val) SNV Benign 323080 rs199762312 GRCh37: 17:39658842-39658842
GRCh38: 17:41502590-41502590
40 KRT13 NM_153490.3(KRT13):c.449G>A (p.Arg150Gln) SNV Benign 323100 rs548070268 GRCh37: 17:39661354-39661354
GRCh38: 17:41505102-41505102
41 KRT13 NM_153490.3(KRT13):c.409C>T (p.Arg137Cys) SNV Benign 323103 rs142183272 GRCh37: 17:39661394-39661394
GRCh38: 17:41505142-41505142
42 KRT13 NM_153490.3(KRT13):c.766G>A (p.Gly256Ser) SNV Benign 323089 rs140780704 GRCh37: 17:39659320-39659320
GRCh38: 17:41503068-41503068
43 KRT13 NM_153490.3(KRT13):c.204C>A (p.Gly68=) SNV Benign 323106 rs113547405 GRCh37: 17:39661599-39661599
GRCh38: 17:41505347-41505347
44 KRT13 NM_153490.3(KRT13):c.1286G>A (p.Arg429His) SNV Benign 323075 rs150321809 GRCh37: 17:39657599-39657599
GRCh38: 17:41501347-41501347
45 KRT13 NM_153490.3(KRT13):c.1133G>A (p.Arg378His) SNV Benign 323079 rs200309164 GRCh37: 17:39658737-39658737
GRCh38: 17:41502485-41502485
46 KRT13 NM_153490.3(KRT13):c.509C>G (p.Thr170Ser) SNV Benign 323098 rs148102980 GRCh37: 17:39659964-39659964
GRCh38: 17:41503712-41503712
47 KRT13 NM_153490.3(KRT13):c.1217G>T (p.Arg406Leu) SNV Benign 323078 rs145983286 GRCh37: 17:39658653-39658653
GRCh38: 17:41502401-41502401
48 KRT13 NM_153490.3(KRT13):c.736-7C>G SNV Benign 323092 rs34367942 GRCh37: 17:39659357-39659357
GRCh38: 17:41503105-41503105
49 KRT13 NM_153490.3(KRT13):c.1009T>C (p.Ser337Pro) SNV Benign 323081 rs139318123 GRCh37: 17:39658953-39658953
GRCh38: 17:41502701-41502701
50 KRT13 NM_153490.3(KRT13):c.897+6C>T SNV Benign 323084 rs4796698 GRCh37: 17:39659183-39659183
GRCh38: 17:41502931-41502931

UniProtKB/Swiss-Prot genetic disease variations for White Sponge Nevus 2:

72
# Symbol AA change Variation ID SNP ID
1 KRT13 p.Leu119Pro VAR_003836 rs60440396
2 KRT13 p.Met108Thr VAR_016035 rs60364670
3 KRT13 p.Asn112Ser VAR_016036 rs59970018
4 KRT13 p.Leu115Pro VAR_016037 rs60906702
5 KRT13 p.Leu111Pro VAR_023924 rs59897026

Expression for White Sponge Nevus 2

Search GEO for disease gene expression data for White Sponge Nevus 2.

Pathways for White Sponge Nevus 2

GO Terms for White Sponge Nevus 2

Sources for White Sponge Nevus 2

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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