OLMS
MCID: MTL007
MIFTS: 49

Mutilating Palmoplantar Keratoderma with Periorificial Keratotic Plaques (OLMS)

Categories: Rare diseases, Skin diseases

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

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

Name: Mutilating Palmoplantar Keratoderma with Periorificial Keratotic Plaques 12 20 58 15
Olmsted Syndrome 12 73 20 58 29
Mutilating Palmoplantar Hyperkeratosis with Periorificial Keratotic Plaques 12 58
Palmoplantar and Periorificial Keratoderma 12 58
Keratoderma, Palmoplantar, Mutilating, with Periorificial Keratotic Plaques 39
Olms 12

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;

Classifications:

Orphanet: 58  
Rare skin diseases


Summaries for Mutilating Palmoplantar Keratoderma with Periorificial Keratotic...

GARD : 20 Olmsted syndrome, also known as mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques, 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 : Mutilating Palmoplantar Keratoderma with Periorificial Keratotic Plaques, also known as olmsted syndrome, is related to olmsted syndrome, x-linked and palmoplantar keratosis. An important gene associated with Mutilating Palmoplantar Keratoderma with Periorificial Keratotic Plaques is TRPV3 (Transient Receptor Potential Cation Channel Subfamily V Member 3), and among its related pathways/superpathways are CREB Pathway and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Affiliated tissues include lung, tongue and skin, and related phenotypes are palmoplantar keratoderma and abnormal fingernail morphology

Disease Ontology : 12 A keratosis characterized by a bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus of lesions.

Wikipedia : 73 Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of... more...

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

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

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 olmsted syndrome, x-linked 33.6 TRPV3 MBTPS2
2 palmoplantar keratosis 31.1 SLURP1 RHBDF2 LORICRIN AAGAB
3 keratosis 30.8 SLURP1 MBTPS2 LORICRIN AAGAB
4 erythromelalgia 30.2 TRPV3 TRPV1 TRPA1
5 ifap syndrome 1, with or without bresheck syndrome 30.1 TRPV3 MBTPS2
6 olmsted syndrome 1 12.0
7 olmsted syndrome 2 11.4
8 hereditary palmoplantar keratoderma 10.5
9 alopecia 10.3
10 photoparoxysmal response 1 10.2 TRPV4 TRPV3
11 palmoplantar keratoderma, nonepidermolytic, focal 1 10.2 TRPV3 SLURP1 RHBDF2
12 inflammatory bowel disease 28 10.2 TRPV2 TRPV1
13 parastremmatic dwarfism 10.2 TRPV4 TRPA1
14 spondylometaphyseal dysplasia, kozlowski type 10.2 TRPV6 TRPV4
15 erythrokeratoderma ''en cocardes'' 10.2
16 metatropic dysplasia 10.2 TRPV6 TRPV4 TRPV3
17 pseudopterygium 10.2 TRPV1 TRPA1
18 pachyonychia congenita 1 10.1
19 photokeratitis 10.1 TRPV1 TRPM8 TRPA1
20 t cell and nk cell immunodeficiency 10.1 TRPC6 TRPC4 TRPC3
21 diabetic neuropathy 10.1 TRPV4 TRPV3 TRPV1 TRPM8
22 trigeminal nerve disease 10.1 TRPV1 TRPM8 TRPA1
23 trigeminal neuralgia 10.1 TRPV1 TRPM8 TRPA1
24 brachyolmia 10.1 TRPV6 TRPV4 TRPV3 TRPV2
25 somatoform disorder 10.1 TRPV1 TRPM8 TRPA1
26 pseudoainhum 10.1
27 waardenburg syndrome, type 3 10.1 TRPV3 TRPM8
28 pain agnosia 10.1 TRPV1 TRPM8 TRPA1
29 immunodeficiency 10 10.1 TRPC4 TRPC3
30 spondyloepiphyseal dysplasia, maroteaux type 10.1 TRPV6 TRPV4 TRPA1
31 agnosia 10.1 TRPV1 TRPM8 TRPA1
32 paroxysmal extreme pain disorder 10.0 TRPV4 TRPV1 TRPM8 TRPA1
33 paine syndrome 10.0 TRPV4 TRPV1 TRPM8 TRPA1
34 vohwinkel syndrome 10.0
35 diffuse alopecia areata 10.0
36 ectodermal dysplasia 10.0
37 hypotrichosis 10.0
38 rare genetic skin disease 10.0
39 developmental and epileptic encephalopathy 24 10.0 TRPV3 TRPV1
40 facial dermatosis 10.0 TRPV4 TRPV3 TRPV2 TRPV1 TRPA1
41 hyperhidrosis, gustatory 10.0 TRPV1 TRPM8 TRPM3 TRPA1
42 acrodermatitis enteropathica, zinc-deficiency type 9.9
43 mal de meleda 9.9
44 keratosis follicularis spinulosa decalvans, autosomal dominant 9.9
45 ifap syndrome 2 9.9
46 keratosis follicularis spinulosa decalvans 9.9
47 ichthyosis 9.9
48 acrodermatitis 9.9
49 enteropathica 9.9
50 migraine with or without aura 1 9.9 TRPV4 TRPV3 TRPV1 TRPM8 TRPA1

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



Diseases related to Mutilating Palmoplantar Keratoderma with Periorificial Keratotic Plaques

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

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

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
2 abnormal fingernail morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001231
3 erythema 58 31 hallmark (90%) Very frequent (99-80%) HP:0010783
4 anhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000970
5 palmoplantar hyperhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0007410
6 ankylosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0031013
7 skin fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0031057
8 sparse hair 31 hallmark (90%) HP:0008070
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 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
14 melanoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002861
15 neoplasm of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0008069
16 neoplasm of the lung 58 31 occasional (7.5%) Occasional (29-5%) HP:0100526
17 abnormality of the tongue 58 31 occasional (7.5%) Occasional (29-5%) HP:0000157
18 osteolysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002797
19 abnormality of the gingiva 58 31 occasional (7.5%) Occasional (29-5%) HP:0000168
20 seizure 31 occasional (7.5%) HP:0001250
21 seizures 58 Occasional (29-5%)
22 abnormality of the dentition 58 Frequent (79-30%)
23 hypotrichosis 58 Very frequent (99-80%)
24 abnormal oral mucosa morphology 58 Occasional (29-5%)
25 thickened skin 58 Very frequent (99-80%)

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

26 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.97 TRPV2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.97 TRPV2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-169 9.97 TRPV2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-174 9.97 TRPC4
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 9.97 TRPV2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-24 9.97 TRPC3 TRPC4
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.97 TRPC3
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-44 9.97 TRPC4
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.97 TRPC3
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.97 TRPC4
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-69 9.97 TRPC3
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-83 9.97 TRPV2
13 Decreased viability GR00221-A-1 9.89 TRPM6 TRPV6
14 Decreased viability GR00221-A-2 9.89 TRPM6 TRPV6
15 Decreased viability GR00221-A-3 9.89 TRPV6
16 Decreased viability GR00221-A-4 9.89 TRPM6 TRPV6
17 Decreased viability GR00249-S 9.89 TRPM3 TRPM4 TRPV3 TRPV4
18 Decreased viability GR00381-A-1 9.89 TRPM8
19 Decreased viability GR00386-A-1 9.89 LORICRIN
20 Decreased viability GR00402-S-2 9.89 RHBDF2 TRPC3 TRPM3 TRPV6
21 Increased the percentage of infected cells GR00402-S-1 8.62 TRPM6 TRPV1

MGI Mouse Phenotypes related to Mutilating Palmoplantar Keratoderma with Periorificial Keratotic Plaques:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 SLURP1 TRPA1 TRPC3 TRPC4 TRPC5 TRPC6
2 integument MP:0010771 9.65 PERP RHBDF2 SLURP1 TRPA1 TRPC6 TRPM3
3 nervous system MP:0003631 9.4 PERP RHBDF2 TRPA1 TRPC3 TRPC4 TRPC5

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Hemiarthroplasty or Internal Fixation for Displaced Femoral Neck Fractures - 5 Years Follow up Completed NCT00764153

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

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

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

# Genetic test Affiliating Genes
1 Olmsted Syndrome 29

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

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

40
Lung, Tongue, Skin

Publications for Mutilating Palmoplantar Keratoderma with Periorificial Keratotic...

Articles related to Mutilating Palmoplantar Keratoderma with Periorificial Keratotic Plaques:

(show top 50) (show all 87)
# Title Authors PMID Year
1
A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia. 6 61
24452206 2014
2
A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome. 6 61
22931912 2013
3
Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. 6 61
22405088 2012
4
Olmsted syndrome in an Iranian family: report of two new cases. 61 6
17367233 2007
5
MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders. 61
33743732 2021
6
Hair loss caused by gain-of-function mutant TRPV3 is associated with premature differentiation of follicular keratinocytes. 61
33675791 2021
7
Genotype‒Phenotype Correlation of TRPV3-Related Olmsted Syndrome. 61
32795529 2021
8
A whole-genome sequencing-based novel preimplantation genetic testing method for de novo mutations combined with chromosomal balanced translocations. 61
32783137 2020
9
PAR2 Mediates Itch via TRPV3 Signaling in Keratinocytes. 61
32004565 2020
10
Novel p.Ala675Thr missense mutation in TRPV3 in Olmsted syndrome. 61
32410213 2020
11
Gating of human TRPV3 in a lipid bilayer. 61
32572252 2020
12
Targeted Inhibition of the Epidermal Growth Factor Receptor and Mammalian Target of Rapamycin Signaling Pathways in Olmsted Syndrome. 61
31895414 2020
13
Use of Epidermal Growth Factor Receptor Inhibitor Erlotinib to Treat Palmoplantar Keratoderma in Patients With Olmsted Syndrome Caused by TRPV3 Mutations. 61
31895432 2020
14
Comment on "Olmsted Syndrome". 61
32566327 2020
15
Olmsted syndrome with alopecia universalis caused by heterozygous mutation in PERP. 61
31361044 2020
16
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
17
Mutations in PERP Cause Dominant and Recessive Keratoderma. 61
30321533 2019
18
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
19
Conformational ensemble of the human TRPV3 ion channel. 61
30429472 2018
20
Structure and gating mechanism of the transient receptor potential channel TRPV3. 61
30127359 2018
21
Olmsted syndrome in three sisters in a family. 61
28799532 2018
22
Olmsted Syndrome with Lateral Supraciliary Madarosis and Clubbing: A Rare Case Report. 61
29644198 2018
23
Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene. 61
29436206 2018
24
Activation of TRPV3 Regulates Inflammatory Actions of Human Epidermal Keratinocytes. 61
28964718 2018
25
Hypotrichosis in a Child with Olmsted Syndrome. 61
29441307 2018
26
Mutilating Keratoderma with Concomitant Alopecia and Keratoses Follicularis Spinulosa Decalvans: X-Linked Olmsted Syndrome and its Response to Isotretinoin. 61
29204395 2017
27
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
28
Understanding the phenotypic similarities between IFAP and Olmsted syndrome from a molecular perspective: the interaction of MBTPS2 and TRPV3. 61
28717930 2017
29
The Ca2+-Permeable Cation Transient Receptor Potential TRPV3 Channel: An Emerging Pivotal Target for Itch and Skin Diseases. 61
28377424 2017
30
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
31
TRPV3 mutants causing Olmsted Syndrome induce impaired cell adhesion and nonfunctional lysosomes. 61
27754757 2017
32
Decreases in 15-lipoxygenase metabolites in Olmsted syndrome model rats. 61
28024685 2017
33
Nagashima-type palmoplantar keratosis in a Chinese Han population. 61
27666198 2016
34
Olmsted Syndrome in a Family. 61
28442872 2016
35
Semidominant Inheritance in Olmsted Syndrome. 61
27189830 2016
36
Two familial cases of Olmsted-like syndrome with a G573V mutation of the TRPV3 gene. 61
27273692 2016
37
Olmsted Syndrome: Rare Occurrence in Four Siblings. 61
27293270 2016
38
A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome. 61
26902751 2016
39
Olmsted syndrome in an Indian male with a new de novo mutation in TRPV3. 61
25989441 2016
40
Expanding the Phenotypic Spectrum of Olmsted Syndrome. 61
26067147 2015
41
Olmsted syndrome with oral involvement, including premature teeth loss. 61
24474548 2015
42
Olmsted syndrome: clinical, molecular and therapeutic aspects. 61
25886873 2015
43
Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations. 61
24606194 2014
44
Discovery in genetic skin disease: the impact of high throughput genetic technologies. 61
25093584 2014
45
Olmsted syndrome in an Iranian boy with a new de novo mutation in TRPV3. 61
24758389 2014
46
Olmsted syndrome caused by a homozygous recessive mutation in TRPV3. 61
24463422 2014
47
Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient. 61
24313295 2014
48
TRPV3: time to decipher a poorly understood family member! 61
23836684 2014
49
Olmsted syndrome. 61
23858339 2013
50
Olmsted syndrome: exploration of the immunological phenotype. 61
23692804 2013

Variations for Mutilating Palmoplantar Keratoderma with Periorificial Keratotic...

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

6 (show all 27)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRPV3 NM_145068.4(TRPV3):c.1717G>A (p.Gly573Ser) SNV Pathogenic 30636 rs199473704 GRCh37: 17:3427518-3427518
GRCh38: 17:3524224-3524224
2 TRPV3 NM_145068.4(TRPV3):c.1717G>T (p.Gly573Cys) SNV Pathogenic 30637 rs199473704 GRCh37: 17:3427518-3427518
GRCh38: 17:3524224-3524224
3 TRPV3 NM_145068.4(TRPV3):c.2074T>G (p.Trp692Gly) SNV Pathogenic 30638 rs199473705 GRCh37: 17:3421881-3421881
GRCh38: 17:3518587-3518587
4 MBTPS2 NM_015884.4(MBTPS2):c.1391T>C (p.Phe464Ser) SNV Pathogenic 126905 rs587777306 GRCh37: X:21900604-21900604
GRCh38: X:21882486-21882486
5 TRPV3 NM_145068.4(TRPV3):c.2017C>T (p.Leu673Phe) SNV Pathogenic 192256 rs786205868 GRCh37: 17:3421938-3421938
GRCh38: 17:3518644-3518644
6 TRPV3 NM_145068.4(TRPV3):c.1703G>T (p.Gly568Val) SNV Pathogenic 803297 rs1057517884 GRCh37: 17:3427532-3427532
GRCh38: 17:3524238-3524238
7 TRPV3 NM_145068.4(TRPV3):c.2272C>T (p.Arg758Ter) SNV Pathogenic 997525 GRCh37: 17:3417893-3417893
GRCh38: 17:3514599-3514599
8 TRPV3 NM_145068.4(TRPV3):c.2185C>T (p.Arg729Ter) SNV Pathogenic 890513 GRCh37: 17:3419764-3419764
GRCh38: 17:3516470-3516470
9 MBTPS2 NM_015884.4(MBTPS2):c.124G>A (p.Gly42Arg) SNV Uncertain significance 1029415 GRCh37: X:21861336-21861336
GRCh38: X:21843218-21843218
10 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*3302_*3303TG[5] Microsatellite Uncertain significance 322673 rs886052836 GRCh37: 17:3413901-3413902
GRCh38: 17:3510607-3510608
11 TRPV3 NM_145068.4(TRPV3):c.881C>A (p.Ser294Ter) SNV Uncertain significance 225504 rs1085307103 GRCh37: 17:3436135-3436135
GRCh38: 17:3532841-3532841
12 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*1591_*1592insC Insertion Uncertain significance 322714 rs112072753 GRCh37: 17:3415619-3415620
GRCh38: 17:3512325-3512326
13 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*1940T>G SNV Uncertain significance 322708 rs886052845 GRCh37: 17:3415271-3415271
GRCh38: 17:3511977-3511977
14 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*85A>G SNV Uncertain significance 322742 rs886052853 GRCh37: 17:3417126-3417126
GRCh38: 17:3513832-3513832
15 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*631A>G SNV Uncertain significance 322736 rs886052851 GRCh37: 17:3416580-3416580
GRCh38: 17:3513286-3513286
16 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*1110_*1111TG[1] Microsatellite Uncertain significance 322725 rs886052849 GRCh37: 17:3416098-3416099
GRCh38: 17:3512804-3512805
17 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*752dup Duplication Uncertain significance 322734 rs886052850 GRCh37: 17:3416458-3416459
GRCh38: 17:3513164-3513165
18 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*92A>C SNV Uncertain significance 322740 rs886052852 GRCh37: 17:3417119-3417119
GRCh38: 17:3513825-3513825
19 TRPV3 NM_145068.4(TRPV3):c.615C>T (p.Asn205=) SNV Uncertain significance 322786 rs372599650 GRCh37: 17:3445844-3445844
GRCh38: 17:3542550-3542550
20 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*1590del Deletion Uncertain significance 322717 rs869218825 GRCh37: 17:3415621-3415621
GRCh38: 17:3512327-3512327
21 TRPV3 NM_145068.4(TRPV3):c.501G>A (p.Thr167=) SNV Uncertain significance 322789 rs780723914 GRCh37: 17:3445958-3445958
GRCh38: 17:3542664-3542664
22 TRPV3 NM_145068.4(TRPV3):c.*32C>T SNV Uncertain significance 322749 rs368105861 GRCh37: 17:3417179-3417179
GRCh38: 17:3513885-3513885
23 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*1621del Deletion Likely benign 322713 rs200084165 GRCh37: 17:3415590-3415590
GRCh38: 17:3512296-3512296
24 TRPV3 NM_145068.4(TRPV3):c.*25dup Duplication Likely benign 322750 rs575765196 GRCh37: 17:3417185-3417186
GRCh38: 17:3513891-3513892
25 TRPV3 NM_145068.4(TRPV3):c.*56dup Duplication Likely benign 322748 rs559927242 GRCh37: 17:3417154-3417155
GRCh38: 17:3513860-3513861
26 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*1591del Deletion Benign 322715 rs57868197 GRCh37: 17:3415620-3415620
GRCh38: 17:3512326-3512326
27 SPATA22 , TRPV3 NM_145068.4(TRPV3):c.*64_*65TG[1] Microsatellite Benign 322745 rs10573788 GRCh37: 17:3417144-3417145
GRCh38: 17:3513850-3513851

Expression for Mutilating Palmoplantar Keratoderma with Periorificial Keratotic...

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

Pathways for Mutilating Palmoplantar Keratoderma with Periorificial Keratotic...

Pathways related to Mutilating Palmoplantar Keratoderma with Periorificial Keratotic Plaques according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.15 TRPV6 TRPV4 TRPV3 TRPV2 TRPV1 TRPM8
2
Show member pathways
13.13 TRPV6 TRPV4 TRPV3 TRPV2 TRPV1 TRPM8
3
Show member pathways
12.39 TRPV4 TRPV3 TRPV2 TRPV1 TRPM8 TRPA1
4 11.97 TRPC6 TRPC5 TRPC4 TRPC3
5
Show member pathways
11.96 TRPV6 TRPV4 TRPV3 TRPV2 TRPV1 TRPM8
6
Show member pathways
11.55 TRPC6 TRPC5 TRPC4 TRPC3
7 11.2 TRPV6 TRPV4 TRPV3 TRPV2 TRPV1 TRPM8

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

Cellular components related to Mutilating Palmoplantar Keratoderma with Periorificial Keratotic Plaques according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.3 TRPV6 TRPV4 TRPV3 TRPV2 TRPV1 TRPM8
2 plasma membrane GO:0005886 10.16 TRPV6 TRPV4 TRPV3 TRPV2 TRPV1 TRPM8
3 integral component of membrane GO:0016021 10.09 TRPV6 TRPV4 TRPV3 TRPV2 TRPV1 TRPM8
4 calcium channel complex GO:0034704 9.5 TRPV6 TRPC5 TRPC4
5 integral component of plasma membrane GO:0005887 9.5 TRPV6 TRPV4 TRPV3 TRPV2 TRPV1 TRPM8
6 cation channel complex GO:0034703 9.26 TRPC6 TRPC5 TRPC4 TRPC3

Biological processes related to Mutilating Palmoplantar Keratoderma with Periorificial Keratotic Plaques according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 calcium ion transmembrane transport GO:0070588 10.1 TRPV6 TRPV4 TRPV3 TRPV2 TRPV1 TRPM8
2 transmembrane transport GO:0055085 10 TRPV6 TRPV4 TRPV3 TRPV2 TRPV1 TRPM8
3 ion transmembrane transport GO:0034220 9.97 TRPV6 TRPV4 TRPV3 TRPV1 TRPM8 TRPM6
4 positive regulation of cytosolic calcium ion concentration GO:0007204 9.92 TRPV4 TRPV1 TRPM4 TRPC6 TRPC5
5 cation transport GO:0006812 9.88 TRPM8 TRPM6 TRPM4 TRPM3 TRPC6
6 cation transmembrane transport GO:0098655 9.84 TRPM8 TRPM6 TRPM4 TRPM3
7 regulation of cytosolic calcium ion concentration GO:0051480 9.8 TRPC6 TRPC5 TRPC4 TRPC3
8 calcium ion transport GO:0006816 9.8 TRPV6 TRPV4 TRPV3 TRPV2 TRPV1 TRPM8
9 calcium ion import across plasma membrane GO:0098703 9.77 TRPV6 TRPV4 TRPV3 TRPV2 TRPV1
10 protein homotetramerization GO:0051289 9.76 TRPV1 TRPM4 TRPA1
11 response to heat GO:0009408 9.73 TRPV3 TRPV2 TRPV1
12 manganese ion transport GO:0006828 9.73 TRPC6 TRPC5 TRPC4 TRPC3
13 divalent metal ion transport GO:0070838 9.71 TRPM8 TRPM6 TRPM4 TRPM3
14 response to temperature stimulus GO:0009266 9.69 TRPV3 TRPV2 TRPM8
15 calcium ion import GO:0070509 9.63 TRPV4 TRPC4
16 thermoception GO:0050955 9.63 TRPV1 TRPM8 TRPA1
17 protein tetramerization GO:0051262 9.62 TRPM6 TRPM3
18 cellular response to ATP GO:0071318 9.62 TRPV1 TRPM4
19 response to pain GO:0048265 9.61 TRPV1 TRPA1
20 positive regulation of calcium ion import GO:0090280 9.61 TRPV3 TRPV2
21 diet induced thermogenesis GO:0002024 9.6 TRPV4 TRPV1
22 negative regulation of dendrite morphogenesis GO:0050774 9.59 TRPC6 TRPC5
23 sensory perception of temperature stimulus GO:0050951 9.58 TRPM8 TRPM3
24 detection of temperature stimulus GO:0016048 9.57 TRPM8 TRPM3
25 detection of chemical stimulus involved in sensory perception of pain GO:0050968 9.55 TRPV1 TRPA1
26 ion transport GO:0006811 9.47 TRPV6 TRPV4 TRPV3 TRPV2 TRPV1 TRPM8

Molecular functions related to Mutilating Palmoplantar Keratoderma with Periorificial Keratotic Plaques according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.43 TRPV6 TRPV4 TRPV3 TRPV2 TRPV1 TRPM8
2 cation channel activity GO:0005261 9.81 TRPV4 TRPV3 TRPV2 TRPV1 TRPM8 TRPM6
3 calcium channel activity GO:0005262 9.8 TRPV6 TRPV4 TRPV3 TRPV2 TRPV1 TRPM8
4 calmodulin binding GO:0005516 9.71 TRPV6 TRPV4 TRPV1 TRPM4
5 inositol 1,4,5 trisphosphate binding GO:0070679 9.62 TRPC6 TRPC5 TRPC4 TRPC3
6 store-operated calcium channel activity GO:0015279 9.56 TRPC6 TRPC5 TRPC4 TRPC3
7 calcium activated cation channel activity GO:0005227 9.49 TRPM4 TRPM3
8 actinin binding GO:0042805 9.48 TRPC6 TRPC5
9 ion channel activity GO:0005216 9.47 TRPV6 TRPV4 TRPV3 TRPV2 TRPV1 TRPM8
10 calcium-release channel activity GO:0015278 9.43 TRPV1 TRPA1
11 ligand-gated calcium channel activity GO:0099604 9.37 TRPM8 TRPM4

Sources for Mutilating Palmoplantar Keratoderma with Periorificial Keratotic...

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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