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MCID: PLM100
MIFTS: 36

Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques

Categories: Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Palmoplantar Keratoderma, Mutilating, with Periorificial...

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare skin diseases


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

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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 anhidrosis and palmoplantar keratoderma

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...

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

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

# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, x-linked 12.7
2 toxocariasis 11.0
3 melanoma 10.1

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

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

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

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

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

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

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

41
Skin, Eye, Tongue, Lung
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Publications for Palmoplantar Keratoderma, Mutilating, with Periorificial...

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

(show top 50) (show all 56)
# Title Authors Year
1
Hypotrichosis in a Child with Olmsted Syndrome. ( 29441307 )
2018
2
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
3
Olmsted syndrome in three sisters in a family. ( 28799532 )
2017
4
Understanding the phenotypic similarities between IFAP and Olmsted syndrome from a molecular perspective: the interaction of MBTPS2 and TRPV3. ( 28717930 )
2017
5
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
6
Olmsted Syndrome in a Family. ( 28442872 )
2016
7
Decreases in 15-lipoxygenase metabolites in Olmsted syndrome model rats. ( 28024685 )
2016
8
Olmsted Syndrome: Rare Occurrence in Four Siblings. ( 27293270 )
2016
9
Semidominant Inheritance in Olmsted Syndrome. ( 27189830 )
2016
10
TRPV3 mutants causing Olmsted Syndrome induce impaired cell adhesion and nonfunctional lysosomes. ( 27754757 )
2016
11
A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome. ( 26902751 )
2016
12
Olmsted syndrome: clinical, molecular and therapeutic aspects. ( 25886873 )
2015
13
Olmsted syndrome in an Indian male with a new de novo mutation in TRPV3. ( 25989441 )
2015
14
Expanding the Phenotypic Spectrum of Olmsted Syndrome. ( 26067147 )
2015
15
Olmsted syndrome in an Iranian boy with a new de novo mutation in TRPV3. ( 24758389 )
2014
16
Olmsted syndrome caused by a homozygous recessive mutation in TRPV3. ( 24463422 )
2014
17
Olmsted syndrome with oral involvement, including premature teeth loss. ( 24474548 )
2014
18
Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations. ( 24606194 )
2014
19
A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia. ( 24452206 )
2014
20
Olmsted syndrome. ( 23858339 )
2013
21
Olmsted syndrome: exploration of the immunological phenotype. ( 23692804 )
2013
22
Recurrent splice-site mutation inA MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient. ( 24313295 )
2013
23
A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome. ( 22931912 )
2013
24
Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome. ( 22835024 )
2012
25
Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. ( 22405088 )
2012
26
Olmsted syndrome. ( 23320205 )
2012
27
Olmsted syndrome: a new case complicated with easily broken hair and treated with oral retinoid. ( 22414321 )
2012
28
Olmsted syndrome: report of two cases. ( 22121289 )
2011
29
Nonmutilating palmoplantar and periorificial kertoderma: a variant of Olmsted syndrome or a distinct entity? ( 20618471 )
2010
30
A case of Olmsted syndrome. ( 20876042 )
2010
31
Olmsted syndrome. ( 19881998 )
2008
32
Olmsted syndrome: a case report and review of literature. ( 18412857 )
2008
33
Palmoplantar keratoderma and skin grafting: postsurgical long-term follow-up of two cases with Olmsted syndrome. ( 18429785 )
2008
34
Olmsted syndrome. ( 17344790 )
2007
35
Olmsted syndrome in an Iranian family: report of two new cases. ( 17367233 )
2007
36
Olmsted syndrome: mutilating palmoplantar keratoderma with periorificial keratotic plaques. ( 16227106 )
2005
37
Olmsted syndrome: report of a new case with unusual features. ( 16197376 )
2005
38
What syndrome is this? Olmsted syndrome. ( 15461772 )
2004
39
Olmsted syndrome--a rare syndrome with oral manifestations. ( 15153872 )
2004
40
Olmsted syndrome: the clinical spectrum of mutilating palmoplantar keratoderma. ( 12869154 )
2003
41
Olmsted syndrome with squamous cell carcinoma of extremities and adenocarcinoma of the lung: failure to detect loricrin gene mutation. ( 14721769 )
2003
42
Olmsted syndrome-palmoplantar and periorificial keratodermas: association with malignant melanoma. ( 12704531 )
2003
43
Olmsted syndrome: report of a case with study of the cellular proliferation in keratoderma. ( 11801792 )
2001
44
A further case of plantar squamous cell carcinoma arising in Olmsted syndrome. ( 11703312 )
2001
45
Olmsted syndrome. ( 11401671 )
2001
46
Olmsted syndrome. ( 20921671 )
1999
47
Keratin expression in Olmsted syndrome. ( 9080906 )
1997
48
Olmsted syndrome: report of a new case. ( 9217830 )
1997
49
Olmsted syndrome with hypotrichosis. ( 20944293 )
1997
50
The Olmsted syndrome. ( 9199984 )
1997
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Variations for Palmoplantar Keratoderma, Mutilating, with Periorificial...

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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 GRCh37 Chromosome 17, 3414135: 3414135
18 TRPV3 NM_145068.3(TRPV3): c.*3076A> C single nucleotide variant Benign rs9913028 GRCh38 Chromosome 17, 3510841: 3510841
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
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Expression for Palmoplantar Keratoderma, Mutilating, with Periorificial...

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

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

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

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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