OLMS
MCID: PLM100
MIFTS: 43

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 56 29 6 71
Olmsted Syndrome 56 74 52 58 73 13
Mutilating Palmoplantar Keratoderma with Periorificial Keratotic Plaques 58 73
Olms 56 73
Mutilating Palmoplantar Hyperkeratosis with Periorificial Keratotic Plaques 58
Keratoderma, Palmoplantar, Mutilating, with Periorificial Keratotic Plaques 39
Palmoplantar and Periorificial Keratoderma 58
Olmsted Syndrome; Olms 56

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
autosomal dominant

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


HPO:

31
palmoplantar keratoderma, mutilating, with periorificial keratotic plaques:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


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

NIH Rare Diseases : 52 Olmsted syndrome is a very rare congenital (present from birth) disorder causing abnormal growth and thickening of skin. The most common affected areas are the palms of the hand, the soles of the feet, and the area around the eyes and mouth. Other symptoms include sparse hair and abnormal nails, joint abnormalities, pain, and itching. The abnormal skin thickening in Olmsted syndrome tends to get worse over time. People with this condition are at increased risk for infections and for skin cancer . Olmsted syndrome is caused by genetic changes (DNA variants ) in the TRPV3 and the MBTPS2 gene . Many different forms of inheritance have been reported, although many cases of Olmsted syndrome are sporadic (a new case in a family). Diagnosis is based on the symptoms, and genetic testing can be helpful. Treatment includes oral and topical retinoids and steroids. Newer medications used to treat cancer are under investigation.

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 testes, and related phenotypes are erythema and palmoplantar keratoderma

OMIM : 56 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 : 73 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 : 74 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 49)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, x-linked 13.1
2 toxocariasis 11.3
3 hereditary palmoplantar keratoderma 10.6
4 palmoplantar keratosis 10.5
5 keratosis 10.4
6 alopecia 10.3
7 retinitis pigmentosa 10.2
8 neuroretinitis 10.2
9 retinitis 10.2
10 retinal disease 10.2
11 erythrokeratoderma ''en cocardes'' 10.1
12 pachyonychia congenita 1 10.1
13 pseudoainhum 10.0
14 vohwinkel syndrome 10.0
15 diffuse alopecia areata 10.0
16 ectodermal dysplasia 10.0
17 hypotrichosis 10.0
18 erythromelalgia 10.0
19 rare genetic skin disease 10.0
20 acrodermatitis enteropathica, zinc-deficiency type 9.9
21 mal de meleda 9.9
22 ifap syndrome with or without bresheck syndrome 9.9
23 keratosis follicularis spinulosa decalvans, autosomal dominant 9.9
24 ichthyosis 9.9
25 acrodermatitis 9.9
26 enteropathica 9.9
27 keratosis follicularis spinulosa decalvans 9.9
28 ainhum 9.7
29 cleft palate, isolated 9.7
30 darier-white disease 9.7
31 hirschsprung disease 1 9.7
32 huriez syndrome 9.7
33 alopecia universalis congenita 9.7
34 cryptorchidism, unilateral or bilateral 9.7
35 tyrosinemia, type ii 9.7
36 branchiootic syndrome 1 9.7
37 melanoma, cutaneous malignant 10 9.7
38 familial woolly hair syndrome 9.7
39 ehlers-danlos syndrome 9.7
40 squamous cell carcinoma 9.7
41 cheilitis 9.7
42 melanoma 9.7
43 papilloma 9.7
44 skin carcinoma 9.7
45 mutism 9.7
46 tyrosinemia 9.7
47 hypereosinophilic syndrome 9.7
48 hidrotic ectodermal dysplasia 2 9.7
49 48,xyyy 9.7

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...

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

58 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 erythema 58 31 hallmark (90%) Very frequent (99-80%) HP:0010783
2 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
3 anhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000970
4 palmoplantar hyperhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0007410
5 ankylosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0031013
6 skin fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0031057
7 sparse hair 31 occasional (7.5%) HP:0008070
8 abnormal fingernail morphology 31 hallmark (90%) HP:0001231
9 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
10 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
11 skin ulcer 58 31 frequent (33%) Frequent (79-30%) HP:0200042
12 hypodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000668
13 osteolysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002797
14 neoplasm of the lung 58 31 occasional (7.5%) Occasional (29-5%) HP:0100526
15 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
16 melanoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002861
17 neoplasm of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0008069
18 abnormality of the tongue 58 31 occasional (7.5%) Occasional (29-5%) HP:0000157
19 abnormality of the gingiva 58 31 occasional (7.5%) Occasional (29-5%) HP:0000168
20 hyperhidrosis 31 occasional (7.5%) HP:0000975
21 opacification of the corneal stroma 31 occasional (7.5%) HP:0007759
22 alopecia universalis 31 occasional (7.5%) HP:0002289
23 seizure 31 occasional (7.5%) HP:0001250
24 abnormality of the dentition 58 Frequent (79-30%)
25 seizures 58 Occasional (29-5%)
26 flexion contracture 31 HP:0001371
27 pruritus 31 HP:0000989
28 thickened skin 58 Very frequent (99-80%)
29 abnormality of the fingernails 58 Very frequent (99-80%)
30 hypotrichosis 58 Very frequent (99-80%)
31 nail dysplasia 31 HP:0002164
32 abnormal oral mucosa morphology 58 Occasional (29-5%)
33 nail dystrophy 31 HP:0008404
34 subungual hyperkeratosis 31 HP:0008392
35 parakeratosis 31 HP:0001036

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Nails:
subungual hyperkeratosis
dystrophic nails
transverse ridging

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 Skin Histology:
parakeratosis
orthohyperkeratosis
marked hyperkeratosis
psoriasiform hyperplasia
hypogranulosis

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

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:

40
Skin, Eye, Testes, Tongue, Lung

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

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

(show top 50) (show all 85)
# Title Authors PMID Year
1
A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia. 61 56 6
24452206 2014
2
Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. 6 61 56
22405088 2012
3
A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome. 6 61
22931912 2013
4
Olmsted syndrome in an Iranian family: report of two new cases. 61 6
17367233 2007
5
Olmsted syndrome: mutilating palmoplantar keratoderma with periorificial keratotic plaques. 56 61
16227106 2005
6
Olmsted syndrome: report of two new cases and literature review. 61 56
11052230 2000
7
Olmsted syndrome--congenital palmoplantar and periorificial keratoderma. 61 56
6232300 1984
8
Mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted's syndrome). 56
2138494 1990
9
Etretinate: management of keratoma hereditaria mutilans in four family members. 56
3161912 1985
10
Acrodermatitis enteropathica. Report of 6 cases. 56
13784244 1961
11
Gating of human TRPV3 in a lipid bilayer. 61
32572252 2020
12
Novel p.Ala675Thr missense mutation in TRPV3 in Olmsted syndrome. 61
32410213 2020
13
Targeted Inhibition of the Epidermal Growth Factor Receptor and Mammalian Target of Rapamycin Signaling Pathways in Olmsted Syndrome. 61
31895414 2020
14
Use of Epidermal Growth Factor Receptor Inhibitor Erlotinib to Treat Palmoplantar Keratoderma in Patients With Olmsted Syndrome Caused by TRPV3 Mutations. 61
31895432 2020
15
Olmsted syndrome with alopecia universalis caused by heterozygous mutation in PERP. 61
31361044 2020
16
PAR2 Mediates Itch via TRPV3 Signaling in Keratinocytes. 61
32004565 2020
17
Comment on "Olmsted Syndrome". 61
32566327 2020
18
Pharmacological Activation of Thermo-Transient Receptor Potential Vanilloid 3 Channels Inhibits Hair Growth by Inducing Cell Death of Hair Follicle Outer Root Sheath. 61
31152005 2019
19
Mutations in PERP Cause Dominant and Recessive Keratoderma. 61
30321533 2019
20
Pharmacological Inhibition of the Temperature-Sensitive and Ca2+-Permeable Transient Receptor Potential Vanilloid TRPV3 Channel by Natural Forsythoside B Attenuates Pruritus and Cytotoxicity of Keratinocytes. 61
30377214 2019
21
Conformational ensemble of the human TRPV3 ion channel. 61
30429472 2018
22
Structure and gating mechanism of the transient receptor potential channel TRPV3. 61
30127359 2018
23
Olmsted syndrome in three sisters in a family. 61
28799532 2018
24
Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene. 61
29436206 2018
25
Olmsted Syndrome with Lateral Supraciliary Madarosis and Clubbing: A Rare Case Report. 61
29644198 2018
26
Activation of TRPV3 Regulates Inflammatory Actions of Human Epidermal Keratinocytes. 61
28964718 2018
27
Hypotrichosis in a Child with Olmsted Syndrome. 61
29441307 2018
28
Mutilating Keratoderma with Concomitant Alopecia and Keratoses Follicularis Spinulosa Decalvans: X-Linked Olmsted Syndrome and its Response to Isotretinoin. 61
29204395 2017
29
Understanding the phenotypic similarities between IFAP and Olmsted syndrome from a molecular perspective: the interaction of MBTPS2 and TRPV3. 61
28717930 2017
30
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. 61
28587736 2017
31
Identification of a heterozygous p.Gly568Val missense mutation in the TRPV3 gene in a Japanese patient with Olmsted syndrome: In silico analysis of TRPV3. 61
28391651 2017
32
The Ca2+-Permeable Cation Transient Receptor Potential TRPV3 Channel: An Emerging Pivotal Target for Itch and Skin Diseases. 61
28377424 2017
33
TRPV3 mutants causing Olmsted Syndrome induce impaired cell adhesion and nonfunctional lysosomes. 61
27754757 2017
34
Decreases in 15-lipoxygenase metabolites in Olmsted syndrome model rats. 61
28024685 2017
35
Nagashima-type palmoplantar keratosis in a Chinese Han population. 61
27666198 2016
36
Olmsted Syndrome in a Family. 61
28442872 2016
37
Semidominant Inheritance in Olmsted Syndrome. 61
27189830 2016
38
Two familial cases of Olmsted-like syndrome with a G573V mutation of the TRPV3 gene. 61
27273692 2016
39
Olmsted Syndrome: Rare Occurrence in Four Siblings. 61
27293270 2016
40
A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome. 61
26902751 2016
41
Olmsted syndrome in an Indian male with a new de novo mutation in TRPV3. 61
25989441 2016
42
Expanding the Phenotypic Spectrum of Olmsted Syndrome. 61
26067147 2015
43
Olmsted syndrome with oral involvement, including premature teeth loss. 61
24474548 2015
44
Olmsted syndrome: clinical, molecular and therapeutic aspects. 61
25886873 2015
45
Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations. 61
24606194 2014
46
Discovery in genetic skin disease: the impact of high throughput genetic technologies. 61
25093584 2014
47
Olmsted syndrome caused by a homozygous recessive mutation in TRPV3. 61
24463422 2014
48
Olmsted syndrome in an Iranian boy with a new de novo mutation in TRPV3. 61
24758389 2014
49
Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient. 61
24313295 2014
50
TRPV3: time to decipher a poorly understood family member! 61
23836684 2014

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

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

6 (show all 23) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRPV3 NM_145068.4(TRPV3):c.1703G>T (p.Gly568Val)SNV Pathogenic 803297 17:3427532-3427532 17:3524238-3524238
2 TRPV3 NM_145068.4(TRPV3):c.1717G>A (p.Gly573Ser)SNV Pathogenic 30636 rs199473704 17:3427518-3427518 17:3524224-3524224
3 TRPV3 NM_145068.4(TRPV3):c.1717G>T (p.Gly573Cys)SNV Pathogenic 30637 rs199473704 17:3427518-3427518 17:3524224-3524224
4 TRPV3 NM_145068.4(TRPV3):c.2074T>G (p.Trp692Gly)SNV Pathogenic 30638 rs199473705 17:3421881-3421881 17:3518587-3518587
5 TRPV3 NM_145068.4(TRPV3):c.2017C>T (p.Leu673Phe)SNV Pathogenic 192256 rs786205868 17:3421938-3421938 17:3518644-3518644
6 TRPV3 NM_145068.4(TRPV3):c.881C>A (p.Ser294Ter)SNV Uncertain significance 225504 rs1085307103 17:3436135-3436135 17:3532841-3532841
7 TRPV3 NM_145068.4(TRPV3):c.*1590deldeletion Uncertain significance 322717 rs869218825 17:3415621-3415621 17:3512327-3512327
8 TRPV3 NM_145068.4(TRPV3):c.*752dupduplication Uncertain significance 322734 rs886052850 17:3416458-3416459 17:3513164-3513165
9 TRPV3 NM_145068.4(TRPV3):c.*92A>CSNV Uncertain significance 322740 rs886052852 17:3417119-3417119 17:3513825-3513825
10 TRPV3 NM_145068.4(TRPV3):c.*1110_*1111TG[1]short repeat Uncertain significance 322725 rs886052849 17:3416098-3416099 17:3512804-3512805
11 TRPV3 NM_145068.4(TRPV3):c.*631A>GSNV Uncertain significance 322736 rs886052851 17:3416580-3416580 17:3513286-3513286
12 TRPV3 NM_145068.4(TRPV3):c.*85A>GSNV Uncertain significance 322742 rs886052853 17:3417126-3417126 17:3513832-3513832
13 TRPV3 NM_145068.4(TRPV3):c.*32C>TSNV Uncertain significance 322749 rs368105861 17:3417179-3417179 17:3513885-3513885
14 TRPV3 NM_145068.4(TRPV3):c.615C>T (p.Asn205=)SNV Uncertain significance 322786 rs372599650 17:3445844-3445844 17:3542550-3542550
15 TRPV3 NM_145068.4(TRPV3):c.*3302_*3303TG[5]short repeat Uncertain significance 322673 rs886052836 17:3413901-3413902 17:3510607-3510608
16 TRPV3 NM_145068.4(TRPV3):c.*1940T>GSNV Uncertain significance 322708 rs886052845 17:3415271-3415271 17:3511977-3511977
17 TRPV3 NM_145068.4(TRPV3):c.*1591_*1592insCinsertion Uncertain significance 322714 rs112072753 17:3415619-3415620 17:3512325-3512326
18 TRPV3 NM_145068.4(TRPV3):c.501G>A (p.Thr167=)SNV Uncertain significance 322789 rs780723914 17:3445958-3445958 17:3542664-3542664
19 TRPV3 NM_145068.4(TRPV3):c.*1621deldeletion Likely benign 322713 rs200084165 17:3415590-3415590 17:3512296-3512296
20 TRPV3 NM_145068.4(TRPV3):c.*25dupduplication Likely benign 322750 rs575765196 17:3417185-3417186 17:3513891-3513892
21 TRPV3 NM_145068.4(TRPV3):c.*56dupduplication Likely benign 322748 rs559927242 17:3417154-3417155 17:3513860-3513861
22 TRPV3 NM_145068.4(TRPV3):c.*1591deldeletion Benign 322715 rs57868197 17:3415620-3415620 17:3512326-3512326
23 TRPV3 NM_145068.4(TRPV3):c.*64_*65TG[1]short repeat Benign 322745 rs10573788 17:3417144-3417145 17:3513850-3513851

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

73
# 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

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

9 (show top 50) (show all 663)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM152022165 YES1 skin,eye,carcinoma,squamous cell carcinoma c.851G>A p.G284E 18:743289-743289 4
2 COSM85720102 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.2065C>T p.R689C 9:132903794-132903794 4
3 COSM90145852 TRAF7 skin,eye,carcinoma,squamous cell carcinoma c.349G>A p.E117K 16:2171264-2171264 4
4 COSM87899076 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 4
5 COSM87899887 TP53 skin,hand,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 4
6 COSM87906137 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 4
7 COSM87915681 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 4
8 COSM87906799 TP53 skin,eye,carcinoma,squamous cell carcinoma c.839G>C p.R280T 17:7673781-7673781 4
9 COSM88075392 TP53 skin,hand,carcinoma,squamous cell carcinoma c.950A>G p.Q317R 17:7673578-7673578 4
10 COSM87897711 TP53 skin,hand,carcinoma,squamous cell carcinoma c.818G>A p.R273H 17:7673802-7673802 4
11 COSM87955907 TP53 skin,hand,carcinoma,squamous cell carcinoma c.845G>C p.R282P 17:7673775-7673775 4
12 COSM87906379 TP53 skin,hand,carcinoma,squamous cell carcinoma c.647T>A p.V216E 17:7674884-7674884 4
13 COSM87898836 TP53 skin,hand,carcinoma,squamous cell carcinoma c.560-1G>A p.? 17:7674972-7674972 4
14 COSM87952409 TP53 skin,eye,carcinoma,squamous cell carcinoma c.859G>C p.E287Q 17:7673761-7673761 4
15 COSM88003756 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>C p.A189P 17:7674966-7674966 4
16 COSM88016543 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>A p.A189T 17:7674966-7674966 4
17 COSM88117113 TP53 skin,hand,carcinoma,squamous cell carcinoma c.590T>C p.V197A 17:7674941-7674941 4
18 COSM87901804 TP53 skin,eye,carcinoma,squamous cell carcinoma c.587G>T p.R196L 17:7674944-7674944 4
19 COSM96398090 STK40 skin,eye,carcinoma,squamous cell carcinoma c.1280C>T p.S427F 1:36341798-36341798 4
20 COSM99818572 SPEN skin,eye,carcinoma,squamous cell carcinoma c.9563C>T p.P3188L 1:15935803-15935803 4
21 COSM89675474 SOX2 skin,eye,carcinoma,squamous cell carcinoma c.237G>A p.W79* 3:181712597-181712597 4
22 COSM140185011 RNF43 skin,eye,carcinoma,squamous cell carcinoma c.866C>T p.S289F 17:58360235-58360235 4
23 COSM94496882 RAD52 skin,eye,carcinoma,squamous cell carcinoma c.779G>A p.R260Q 12:916430-916430 4
24 COSM112619412 PPP6C skin,eye,carcinoma,squamous cell carcinoma c.901C>T p.R301C 9:125149801-125149801 4
25 COSM125322720 PIK3R1 skin,eye,carcinoma,squamous cell carcinoma c.608A>G p.Y203C 5:68279707-68279707 4
26 COSM97110376 NRAS skin,hand,carcinoma,squamous cell carcinoma c.395A>G p.E132G 1:114709624-114709624 4
27 COSM88392222 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.6662T>C p.V2221A 1:119916060-119916060 4
28 COSM88392238 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.1340G>A p.G447D 1:119967546-119967546 4
29 COSM88408801 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.1800G>A p.M600I 1:119963689-119963689 4
30 COSM88392232 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.3293G>A p.C1098Y 1:119937901-119937901 4
31 COSM88393300 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.5123C>T p.S1708F 1:119922326-119922326 4
32 COSM88390873 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.863C>T p.P288L 1:119986971-119986971 4
33 COSM88407043 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.3425C>T p.T1142I 1:119937379-119937379 4
34 COSM88409291 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.3100T>C p.C1034R 1:119940638-119940638 4
35 COSM88407049 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.872C>T p.T291I 1:119986962-119986962 4
36 COSM88398931 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.6964C>T p.P2322S 1:119915758-119915758 4
37 COSM88399145 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.2581T>G p.C861G 1:119949025-119949025 4
38 COSM88392225 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.5782-1G>A p.? 1:119918554-119918554 4
39 COSM88409894 NOTCH2 skin,eye,carcinoma,squamous cell carcinoma c.4091C>T p.P1364L 1:119925725-119925725 4
40 COSM88388711 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.337C>T p.R113* 1:120005407-120005407 4
41 COSM88408809 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.1640G>A p.C547Y 1:119965494-119965494 4
42 COSM88392244 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.988T>C p.W330R 1:119969631-119969631 4
43 COSM88406295 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.4966C>T p.Q1656* 1:119922672-119922672 4
44 COSM88404616 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.7078C>A p.Q2360K 1:119915644-119915644 4
45 COSM87648187 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.5057T>C p.V1686A 9:136503292-136503292 4
46 COSM87685993 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.4411G>A p.A1471T 9:136505485-136505485 4
47 COSM87695196 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.1631T>C p.L544P 9:136516019-136516019 4
48 COSM87675424 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.6787C>T p.R2263W 9:136496952-136496952 4
49 COSM87695244 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.2536C>T p.Q846* 9:136511203-136511203 4
50 COSM87644755 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.1393G>A p.A465T 9:136517800-136517800 4

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...

3 CDC
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32 ICD10
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