OLMS
MCID: PLM100
MIFTS: 38

Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques (OLMS)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Palmoplantar Keratoderma, Mutilating, with Periorificial...

MalaCards integrated aliases for Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques:

Name: Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques 57 29 6 73
Olmsted Syndrome 57 76 53 59 75 13
Mutilating Palmoplantar Keratoderma with Periorificial Keratotic Plaques 59 75
Olms 57 75
Keratoderma, Palmoplantar, Mutilating, with Periorificial Keratotic Plaques ) 40
Mutilating Palmoplantar Hyperkeratosis with Periorificial Keratotic Plaques 59
Palmoplantar and Periorificial Keratoderma 59
Olmsted Syndrome; Olms 57

Characteristics:

Orphanet epidemiological data:

59
mutilating palmoplantar keratoderma with periorificial keratotic plaques
Inheritance: Autosomal dominant,Not applicable,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures)


HPO:

32
palmoplantar keratoderma, mutilating, with periorificial keratotic plaques:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


Summaries for Palmoplantar Keratoderma, Mutilating, with Periorificial...

NIH Rare Diseases : 53 Olmsted syndrome is a rare congenital (present from birth) disorder characterized by symmetrical, well-defined palmoplantar keratoderma (PPK) surrounded by reddened skin and deformities of the joints that lead to constriction and spontaneous amputation; horny growths around the eyes and mouth, nail abnormalities, white thickened patches around the anus and mouth; and sparse hair. It may be complicated by multiple infections and squamous cell carcinoma. Olmstead syndrome is caused by mutations in the TRPV3 gene. It is transmitted through autosomal dominant inheritance. Treatment includes oral and topical retinoids, such as acetretin.

MalaCards based summary : Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques, also known as olmsted syndrome, is related to palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, x-linked and toxocariasis. An important gene associated with Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques is TRPV3 (Transient Receptor Potential Cation Channel Subfamily V Member 3). Affiliated tissues include skin, eye and tongue, and related phenotypes are seizures and carious teeth

OMIM : 57 Olmsted syndrome is a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques with severe pruritus of lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas (summary by Lin et al., 2012). The digital constriction ('pseudoainhum') may progress to autoamputation of fingers and toes (Olmsted, 1927). (614594)

UniProtKB/Swiss-Prot : 75 Olmsted syndrome: A rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas. The digital constriction may progress to autoamputation of fingers and toes.

Wikipedia : 76 Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of... more...

Related Diseases for Palmoplantar Keratoderma, Mutilating, with Periorificial...

Diseases related to Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, x-linked 12.9
2 toxocariasis 11.1
3 horns in sheep 10.1
4 dermatitis 10.1
5 palmoplantar keratosis 10.0
6 squamous cell carcinoma 9.9
7 hypotrichosis 9.9
8 erythromelalgia 9.9
9 vohwinkel syndrome 9.8
10 alopecia 9.8
11 melanoma 9.8
12 adenocarcinoma 9.8
13 ichthyosis follicularis atrichia photophobia syndrome 9.8

Graphical network of the top 20 diseases related to Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques:



Diseases related to Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques

Symptoms & Phenotypes for Palmoplantar Keratoderma, Mutilating, with Periorificial...

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin Histology:
parakeratosis
orthohyperkeratosis
marked hyperkeratosis
psoriasiform hyperplasia
hypogranulosis

Skeletal Hands:
flexion contractures of fingers
constricting digital bands
autoamputation of fingers (in some patients)

Skin Nails Hair Skin:
hyperhidrosis (in some patients)
keratoderma, mutilating, of palms and soles
keratotic plaque, periorificial
pruritus of skin lesions, severe
anhidrosis over skin lesions (rare)
more
Head And Neck Ears:
keratotic plaque around ear meatus

Head And Neck Nose:
keratotic plaque around nostrils

Abdomen Gastrointestinal:
perianal keratotic plaque

Skeletal Feet:
constricting digital bands
autoamputation of toes (in some patients)

Skin Nails Hair Nails:
subungual hyperkeratosis
dystrophic nails
transverse ridging

Skin Nails Hair Hair:
sparse hair (in some patients)
alopecia universalis (in some patients)
pili torti defects (in some patients)
trichorrhexis nodosa-type defects (in some patients)

Head And Neck Mouth:
perioral keratotic plaque
leukokeratosis of tongue and/or buccal mucosa (in some patients)

Head And Neck Eyes:
corneal opacity (rare)

Head And Neck Neck:
keratotic plaque (in some patients)

Genitourinary:
keratotic plaque in perigenital region

Neoplasia:
squamous cell carcinoma in area of palmoplantar keratoderma (rare)


Clinical features from OMIM:

614594

Human phenotypes related to Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
2 carious teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000670
3 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
4 palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000982
5 abnormality of the fingernails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001231
6 alopecia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001596
7 melanoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002861
8 skin ulcer 59 32 frequent (33%) Frequent (79-30%) HP:0200042
9 hypotrichosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001006
10 neoplasm of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0008069
11 erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0010783
12 hypodontia 59 32 frequent (33%) Frequent (79-30%) HP:0000668
13 osteolysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002797
14 neoplasm of the lung 59 32 occasional (7.5%) Occasional (29-5%) HP:0100526
15 anhidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000970
16 abnormality of the tongue 59 32 occasional (7.5%) Occasional (29-5%) HP:0000157
17 abnormality of the gingiva 59 32 occasional (7.5%) Occasional (29-5%) HP:0000168
18 palmoplantar hyperhidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0007410
19 ankylosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0031013
20 skin fissure 59 32 hallmark (90%) Very frequent (99-80%) HP:0031057
21 hyperhidrosis 32 occasional (7.5%) HP:0000975
22 abnormality of the dentition 59 Frequent (79-30%)
23 flexion contracture 32 HP:0001371
24 parakeratosis 32 HP:0001036
25 nail dystrophy 32 HP:0008404
26 pruritus 32 HP:0000989
27 opacification of the corneal stroma 32 occasional (7.5%) HP:0007759
28 thickened skin 59 Very frequent (99-80%)
29 nail dysplasia 32 HP:0002164
30 sparse hair 32 occasional (7.5%) HP:0008070
31 abnormality of oral mucosa 59 Occasional (29-5%)
32 subungual hyperkeratosis 32 HP:0008392
33 alopecia universalis 32 occasional (7.5%) HP:0002289

GenomeRNAi Phenotypes related to Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Upregulation of Wnt pathway GR00057-A-1 8.62 SPATA22 TRPV3

Drugs & Therapeutics for Palmoplantar Keratoderma, Mutilating, with Periorificial...

Search Clinical Trials , NIH Clinical Center for Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques

Genetic Tests for Palmoplantar Keratoderma, Mutilating, with Periorificial...

Genetic tests related to Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques:

# Genetic test Affiliating Genes
1 Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques 29 TRPV3

Anatomical Context for Palmoplantar Keratoderma, Mutilating, with Periorificial...

MalaCards organs/tissues related to Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques:

41
Skin, Eye, Tongue, Lung

Publications for Palmoplantar Keratoderma, Mutilating, with Periorificial...

Articles related to Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques:

(show top 50) (show all 60)
# Title Authors Year
1
Hypotrichosis in a Child with Olmsted Syndrome. ( 29441307 )
2018
2
Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene. ( 29436206 )
2018
3
Olmsted Syndrome with Lateral Supraciliary Madarosis and Clubbing: A Rare Case Report. ( 29644198 )
2018
4
A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation. ( 28587736 )
2017
5
Olmsted syndrome in three sisters in a family. ( 28799532 )
2017
6
Understanding the phenotypic similarities between IFAP and Olmsted syndrome from a molecular perspective: the interaction of MBTPS2 and TRPV3. ( 28717930 )
2017
7
Mutilating Keratoderma with Concomitant Alopecia and Keratoses Follicularis Spinulosa Decalvans: X-Linked Olmsted Syndrome and its Response to Isotretinoin. ( 29204395 )
2017
8
Identification of a heterozygous p.Gly568Val missense mutation in the TRPV3 gene in a Japanese patient with Olmsted syndrome: In silico analysis of TRPV3. ( 28391651 )
2017
9
Olmsted Syndrome in a Family. ( 28442872 )
2016
10
Decreases in 15-lipoxygenase metabolites in Olmsted syndrome model rats. ( 28024685 )
2016
11
Olmsted Syndrome: Rare Occurrence in Four Siblings. ( 27293270 )
2016
12
Semidominant Inheritance in Olmsted Syndrome. ( 27189830 )
2016
13
TRPV3 mutants causing Olmsted Syndrome induce impaired cell adhesion and nonfunctional lysosomes. ( 27754757 )
2016
14
A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome. ( 26902751 )
2016
15
Olmsted syndrome: clinical, molecular and therapeutic aspects. ( 25886873 )
2015
16
Olmsted syndrome in an Indian male with a new de novo mutation in TRPV3. ( 25989441 )
2015
17
Expanding the Phenotypic Spectrum of Olmsted Syndrome. ( 26067147 )
2015
18
Olmsted syndrome in an Iranian boy with a new de novo mutation in TRPV3. ( 24758389 )
2014
19
Olmsted syndrome caused by a homozygous recessive mutation in TRPV3. ( 24463422 )
2014
20
Olmsted syndrome with oral involvement, including premature teeth loss. ( 24474548 )
2014
21
Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations. ( 24606194 )
2014
22
A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia. ( 24452206 )
2014
23
Olmsted syndrome. ( 23858339 )
2013
24
Olmsted syndrome: exploration of the immunological phenotype. ( 23692804 )
2013
25
Recurrent splice-site mutation inA MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient. ( 24313295 )
2013
26
A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome. ( 22931912 )
2013
27
Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome. ( 22835024 )
2012
28
Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. ( 22405088 )
2012
29
Olmsted syndrome. ( 23320205 )
2012
30
Olmsted syndrome: a new case complicated with easily broken hair and treated with oral retinoid. ( 22414321 )
2012
31
Olmsted syndrome: report of two cases. ( 22121289 )
2011
32
Nonmutilating palmoplantar and periorificial kertoderma: a variant of Olmsted syndrome or a distinct entity? ( 20618471 )
2010
33
A case of Olmsted syndrome. ( 20876042 )
2010
34
Olmsted syndrome. ( 19881998 )
2008
35
Olmsted syndrome: a case report and review of literature. ( 18412857 )
2008
36
Palmoplantar keratoderma and skin grafting: postsurgical long-term follow-up of two cases with Olmsted syndrome. ( 18429785 )
2008
37
Olmsted syndrome. ( 17344790 )
2007
38
Olmsted syndrome in an Iranian family: report of two new cases. ( 17367233 )
2007
39
Olmsted syndrome: mutilating palmoplantar keratoderma with periorificial keratotic plaques. ( 16227106 )
2005
40
Olmsted syndrome: report of a new case with unusual features. ( 16197376 )
2005
41
What syndrome is this? Olmsted syndrome. ( 15461772 )
2004
42
Olmsted syndrome--a rare syndrome with oral manifestations. ( 15153872 )
2004
43
Olmsted syndrome: the clinical spectrum of mutilating palmoplantar keratoderma. ( 12869154 )
2003
44
Olmsted syndrome with squamous cell carcinoma of extremities and adenocarcinoma of the lung: failure to detect loricrin gene mutation. ( 14721769 )
2003
45
Olmsted syndrome-palmoplantar and periorificial keratodermas: association with malignant melanoma. ( 12704531 )
2003
46
Olmsted syndrome: report of a case with study of the cellular proliferation in keratoderma. ( 11801792 )
2001
47
A further case of plantar squamous cell carcinoma arising in Olmsted syndrome. ( 11703312 )
2001
48
Olmsted syndrome. ( 11401671 )
2001
49
Olmsted syndrome: report of two new cases and literature review. ( 11052230 )
2000
50
Olmsted syndrome. ( 20921671 )
1999

Variations for Palmoplantar Keratoderma, Mutilating, with Periorificial...

UniProtKB/Swiss-Prot genetic disease variations for Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques:

75
# Symbol AA change Variation ID SNP ID
1 TRPV3 p.Gly573Cys VAR_067920 rs199473704
2 TRPV3 p.Gly573Ser VAR_067921 rs199473704
3 TRPV3 p.Trp692Gly VAR_067922 rs199473705

ClinVar genetic disease variations for Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques:

6 (show top 50) (show all 296)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPV3 NM_145068.3(TRPV3): c.1717G> A (p.Gly573Ser) single nucleotide variant Pathogenic rs199473704 GRCh37 Chromosome 17, 3427518: 3427518
2 TRPV3 NM_145068.3(TRPV3): c.1717G> A (p.Gly573Ser) single nucleotide variant Pathogenic rs199473704 GRCh38 Chromosome 17, 3524224: 3524224
3 TRPV3 NM_145068.3(TRPV3): c.1717G> T (p.Gly573Cys) single nucleotide variant Pathogenic rs199473704 GRCh37 Chromosome 17, 3427518: 3427518
4 TRPV3 NM_145068.3(TRPV3): c.1717G> T (p.Gly573Cys) single nucleotide variant Pathogenic rs199473704 GRCh38 Chromosome 17, 3524224: 3524224
5 TRPV3 NM_145068.3(TRPV3): c.2074T> G (p.Trp692Gly) single nucleotide variant Pathogenic rs199473705 GRCh37 Chromosome 17, 3421881: 3421881
6 TRPV3 NM_145068.3(TRPV3): c.2074T> G (p.Trp692Gly) single nucleotide variant Pathogenic rs199473705 GRCh38 Chromosome 17, 3518587: 3518587
7 TRPV3 NM_145068.3(TRPV3): c.2017C> T (p.Leu673Phe) single nucleotide variant Pathogenic rs786205868 GRCh37 Chromosome 17, 3421938: 3421938
8 TRPV3 NM_145068.3(TRPV3): c.2017C> T (p.Leu673Phe) single nucleotide variant Pathogenic rs786205868 GRCh38 Chromosome 17, 3518644: 3518644
9 TRPV3 NM_001258205.1(TRPV3): c.881C> A (p.Ser294Ter) single nucleotide variant Uncertain significance rs1085307103 GRCh37 Chromosome 17, 3436135: 3436135
10 TRPV3 NM_001258205.1(TRPV3): c.881C> A (p.Ser294Ter) single nucleotide variant Uncertain significance rs1085307103 GRCh38 Chromosome 17, 3532841: 3532841
11 TRPV3 NM_145068.3(TRPV3): c.*3340C> G single nucleotide variant Uncertain significance rs886052835 GRCh37 Chromosome 17, 3413871: 3413871
12 TRPV3 NM_145068.3(TRPV3): c.*3340C> G single nucleotide variant Uncertain significance rs886052835 GRCh38 Chromosome 17, 3510577: 3510577
13 TRPV3 NM_145068.3(TRPV3): c.*3196T> C single nucleotide variant Likely benign rs188531155 GRCh38 Chromosome 17, 3510721: 3510721
14 TRPV3 NM_145068.3(TRPV3): c.*3196T> C single nucleotide variant Likely benign rs188531155 GRCh37 Chromosome 17, 3414015: 3414015
15 TRPV3 NM_145068.3(TRPV3): c.*3148G> A single nucleotide variant Uncertain significance rs886052838 GRCh38 Chromosome 17, 3510769: 3510769
16 TRPV3 NM_145068.3(TRPV3): c.*3148G> A single nucleotide variant Uncertain significance rs886052838 GRCh37 Chromosome 17, 3414063: 3414063
17 TRPV3 NM_145068.3(TRPV3): c.*3076A> C single nucleotide variant Benign rs9913028 GRCh38 Chromosome 17, 3510841: 3510841
18 TRPV3 NM_145068.3(TRPV3): c.*3076A> C single nucleotide variant Benign rs9913028 GRCh37 Chromosome 17, 3414135: 3414135
19 TRPV3 NM_145068.3(TRPV3): c.*2783G> A single nucleotide variant Likely benign rs182187548 GRCh38 Chromosome 17, 3511134: 3511134
20 TRPV3 NM_145068.3(TRPV3): c.*2783G> A single nucleotide variant Likely benign rs182187548 GRCh37 Chromosome 17, 3414428: 3414428
21 TRPV3 NM_145068.3(TRPV3): c.*2729A> G single nucleotide variant Likely benign rs118043532 GRCh38 Chromosome 17, 3511188: 3511188
22 TRPV3 NM_145068.3(TRPV3): c.*2729A> G single nucleotide variant Likely benign rs118043532 GRCh37 Chromosome 17, 3414482: 3414482
23 TRPV3 NM_145068.3(TRPV3): c.*2622G> T single nucleotide variant Uncertain significance rs886052841 GRCh38 Chromosome 17, 3511295: 3511295
24 TRPV3 NM_145068.3(TRPV3): c.*2622G> T single nucleotide variant Uncertain significance rs886052841 GRCh37 Chromosome 17, 3414589: 3414589
25 TRPV3 NM_145068.3(TRPV3): c.*2296T> C single nucleotide variant Uncertain significance rs886052844 GRCh38 Chromosome 17, 3511621: 3511621
26 TRPV3 NM_145068.3(TRPV3): c.*2296T> C single nucleotide variant Uncertain significance rs886052844 GRCh37 Chromosome 17, 3414915: 3414915
27 TRPV3 NM_145068.3(TRPV3): c.*2169C> A single nucleotide variant Likely benign rs147868324 GRCh38 Chromosome 17, 3511748: 3511748
28 TRPV3 NM_145068.3(TRPV3): c.*2169C> A single nucleotide variant Likely benign rs147868324 GRCh37 Chromosome 17, 3415042: 3415042
29 TRPV3 NM_145068.3(TRPV3): c.*2153A> G single nucleotide variant Likely benign rs545225352 GRCh38 Chromosome 17, 3511764: 3511764
30 TRPV3 NM_145068.3(TRPV3): c.*2153A> G single nucleotide variant Likely benign rs545225352 GRCh37 Chromosome 17, 3415058: 3415058
31 TRPV3 NM_145068.3(TRPV3): c.*2014A> T single nucleotide variant Likely benign rs79031278 GRCh38 Chromosome 17, 3511903: 3511903
32 TRPV3 NM_145068.3(TRPV3): c.*2014A> T single nucleotide variant Likely benign rs79031278 GRCh37 Chromosome 17, 3415197: 3415197
33 TRPV3 NM_145068.3(TRPV3): c.*1591delG deletion Benign rs57868197 GRCh38 Chromosome 17, 3512326: 3512326
34 TRPV3 NM_145068.3(TRPV3): c.*1591delG deletion Benign rs57868197 GRCh37 Chromosome 17, 3415620: 3415620
35 TRPV3 NM_145068.3(TRPV3): c.*1590T> C single nucleotide variant Benign rs5818898 GRCh38 Chromosome 17, 3512327: 3512327
36 TRPV3 NM_145068.3(TRPV3): c.*1590T> C single nucleotide variant Benign rs5818898 GRCh37 Chromosome 17, 3415621: 3415621
37 TRPV3 NM_145068.3(TRPV3): c.*1590delT deletion Uncertain significance rs869218825 GRCh38 Chromosome 17, 3512327: 3512327
38 TRPV3 NM_145068.3(TRPV3): c.*1590delT deletion Uncertain significance rs869218825 GRCh37 Chromosome 17, 3415621: 3415621
39 TRPV3 NM_145068.3(TRPV3): c.*1083A> C single nucleotide variant Likely benign rs144909742 GRCh38 Chromosome 17, 3512834: 3512834
40 TRPV3 NM_145068.3(TRPV3): c.*1083A> C single nucleotide variant Likely benign rs144909742 GRCh37 Chromosome 17, 3416128: 3416128
41 TRPV3 NM_145068.3(TRPV3): c.*949T> A single nucleotide variant Benign rs55875649 GRCh38 Chromosome 17, 3512968: 3512968
42 TRPV3 NM_145068.3(TRPV3): c.*949T> A single nucleotide variant Benign rs55875649 GRCh37 Chromosome 17, 3416262: 3416262
43 TRPV3 NM_145068.3(TRPV3): c.*902T> G single nucleotide variant Benign rs7209047 GRCh38 Chromosome 17, 3513015: 3513015
44 TRPV3 NM_145068.3(TRPV3): c.*902T> G single nucleotide variant Benign rs7209047 GRCh37 Chromosome 17, 3416309: 3416309
45 TRPV3 NM_145068.3(TRPV3): c.*752dupA duplication Uncertain significance rs886052850 GRCh38 Chromosome 17, 3513165: 3513165
46 TRPV3 NM_145068.3(TRPV3): c.*752dupA duplication Uncertain significance rs886052850 GRCh37 Chromosome 17, 3416459: 3416459
47 TRPV3 NM_145068.3(TRPV3): c.*92A> C single nucleotide variant Uncertain significance rs886052852 GRCh38 Chromosome 17, 3513825: 3513825
48 TRPV3 NM_145068.3(TRPV3): c.*92A> C single nucleotide variant Uncertain significance rs886052852 GRCh37 Chromosome 17, 3417119: 3417119
49 TRPV3 NM_145068.3(TRPV3): c.*84G> A single nucleotide variant Likely benign rs146188912 GRCh38 Chromosome 17, 3513833: 3513833
50 TRPV3 NM_145068.3(TRPV3): c.*84G> A single nucleotide variant Likely benign rs146188912 GRCh37 Chromosome 17, 3417127: 3417127

Cosmic variations for Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques:

9 (show top 50) (show all 1323)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6982918 YES1 skin,eye,carcinoma,squamous cell carcinoma c.851G>A p.G284E 18:743289-743289 8
2 COSM4736805 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.2065C>T p.R689C 9:132903794-132903794 8
3 COSM6971614 TRAF7 skin,eye,carcinoma,squamous cell carcinoma c.349G>A p.E117K 16:2171264-2171264 8
4 COSM45444 TP53 skin,eye,carcinoma,squamous cell carcinoma c.587G>T p.R196L 17:7674944-7674944 8
5 COSM6937552 TP53 skin,eye,carcinoma,squamous cell carcinoma c.859G>C p.E287Q 17:7673761-7673761 8
6 COSM10724 TP53 skin,eye,carcinoma,squamous cell carcinoma c.839G>C p.R280T 17:7673781-7673781 8
7 COSM4462891 STK40 skin,eye,carcinoma,squamous cell carcinoma c.1265C>T p.S422F 1:36341798-36341798 8
8 COSM4462893 STK40 skin,eye,carcinoma,squamous cell carcinoma c.1265C>T p.S422F 1:36341798-36341798 8
9 COSM6009093 SPEN skin,eye,carcinoma,squamous cell carcinoma c.9563C>T p.P3188L 1:15935803-15935803 8
10 COSM6982915 SOX2 skin,eye,carcinoma,squamous cell carcinoma c.237G>A p.W79* 3:181712597-181712597 8
11 COSM5538304 RNF43 skin,eye,carcinoma,squamous cell carcinoma c.866C>T p.S289F 17:58360235-58360235 8
12 COSM5468163 RAD52 skin,eye,carcinoma,squamous cell carcinoma c.779G>A p.R260Q 12:916430-916430 8
13 COSM221754 PPP6C skin,eye,carcinoma,squamous cell carcinoma c.790C>T p.R264C 9:125149801-125149801 8
14 COSM6971613 PIK3R1 skin,eye,carcinoma,squamous cell carcinoma c.608A>G p.Y203C 5:68279707-68279707 8
15 COSM6971611 NOTCH2 skin,eye,carcinoma,squamous cell carcinoma c.4091C>T p.P1364L 1:119925725-119925725 8
16 COSM6072631 KDM5A skin,eye,carcinoma,squamous cell carcinoma c.973C>T p.P325S 12:354132-354132 8
17 COSM6982913 INPP4A skin,eye,carcinoma,squamous cell carcinoma c.407G>A p.G136E 2:98536148-98536148 8
18 COSM6982909 IKBKE skin,eye,carcinoma,squamous cell carcinoma c.537C>A p.Y179* 1:206476359-206476359 8
19 COSM498 HRAS skin,eye,carcinoma,squamous cell carcinoma c.182A>T p.Q61L 11:533874-533874 8
20 COSM732369 FBXW7 skin,eye,carcinoma,squamous cell carcinoma c.535C>T p.R179C 4:152350091-152350091 8
21 COSM6971612 CTNNB1 skin,eye,carcinoma,squamous cell carcinoma c.1420C>T p.R474* 3:41233763-41233763 8
22 COSM13828 CDKN2A skin,eye,carcinoma,squamous cell carcinoma c.149A>G p.Q50R 9:21974679-21974679 8
23 COSM4900080 BTK skin,eye,carcinoma,squamous cell carcinoma c.262G>A p.E88K 23:101371680-101371680 8
24 COSM6971615 BRIP1 skin,eye,carcinoma,squamous cell carcinoma c.1463C>T p.P488L 17:61793607-61793607 8
25 COSM6971610 BARD1 skin,eye,carcinoma,squamous cell carcinoma c.722C>T p.S241F 2:214781152-214781152 8
26 COSM6982919 AR skin,eye,carcinoma,squamous cell carcinoma c.1883G>A p.G628E 23:67686124-67686124 8
27 COSM1432255 APC skin,eye,carcinoma,squamous cell carcinoma c.3367C>T p.Q1123* 5:112838961-112838961 8
28 COSM6971616 skin,eye,carcinoma,squamous cell carcinoma c.1463C>T p.P488L 17:61793607-61793607 8
29 COSM6985419 skin,eye,carcinoma,squamous cell carcinoma c.149A>G p.Q50R 9:21974679-21974679 8
30 COSM3733332 skin,eye,carcinoma,squamous cell carcinoma c.839G>C p.R280T 17:7673781-7673781 8
31 COSM6982911 skin,eye,carcinoma,squamous cell carcinoma c.407G>A p.G136E 2:98536148-98536148 8
32 COSM6982912 skin,eye,carcinoma,squamous cell carcinoma c.407G>A p.G136E 2:98536148-98536148 8
33 COSM6985418 skin,eye,carcinoma,squamous cell carcinoma c.149A>G p.Q50R 9:21974679-21974679 8
34 COSM254987 skin,eye,carcinoma,squamous cell carcinoma c.839G>C p.R280T 17:7673781-7673781 8
35 COSM6982921 skin,eye,carcinoma,squamous cell carcinoma c.1313G>A p.G438E 23:67686124-67686124 8
36 COSM6971609 skin,eye,carcinoma,squamous cell carcinoma c.722C>T p.S241F 2:214781152-214781152 8
37 COSM6937551 skin,eye,carcinoma,squamous cell carcinoma c.859G>C p.E287Q 17:7673761-7673761 8
38 COSM6937553 skin,eye,carcinoma,squamous cell carcinoma c.859G>C p.E287Q 17:7673761-7673761 8
39 COSM1151204 skin,eye,carcinoma,squamous cell carcinoma c.901C>T p.R301C 9:125149801-125149801 8
40 COSM1649340 skin,eye,carcinoma,squamous cell carcinoma c.839G>C p.R280T 17:7673781-7673781 8
41 COSM4462892 skin,eye,carcinoma,squamous cell carcinoma c.1280C>T p.S427F 1:36341798-36341798 8
42 COSM732370 skin,eye,carcinoma,squamous cell carcinoma c.535C>T p.R179C 4:152350091-152350091 8
43 COSM1149858 skin,eye,carcinoma,squamous cell carcinoma c.181C>T p.R61C 4:152350091-152350091 8
44 COSM732371 skin,eye,carcinoma,squamous cell carcinoma c.295C>T p.R99C 4:152350091-152350091 8
45 COSM6072630 skin,eye,carcinoma,squamous cell carcinoma c.973C>T p.P325S 12:354132-354132 8
46 COSM6982920 skin,eye,carcinoma,squamous cell carcinoma c.287G>A p.G96E 23:67686124-67686124 8
47 COSM6937554 skin,eye,carcinoma,squamous cell carcinoma c.859G>C p.E287Q 17:7673761-7673761 8
48 COSM3639486 skin,eye,carcinoma,squamous cell carcinoma c.910G>A p.E304K 7:50399977-50399977 8
49 COSM6982914 skin,eye,carcinoma,squamous cell carcinoma c.407G>A p.G136E 2:98536148-98536148 8
50 COSM3724309 ZNF536 upper aerodigestive tract,mouth,carcinoma,squamous cell carcinoma c.1935G>C p.Q645H 19:30445497-30445497 7

Expression for Palmoplantar Keratoderma, Mutilating, with Periorificial...

Search GEO for disease gene expression data for Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques.

Pathways for Palmoplantar Keratoderma, Mutilating, with Periorificial...

GO Terms for Palmoplantar Keratoderma, Mutilating, with Periorificial...

Sources for Palmoplantar Keratoderma, Mutilating, with Periorificial...

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