MCID: FCL029
MIFTS: 27

Focal Palmoplantar Keratoderma

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Focal Palmoplantar Keratoderma

MalaCards integrated aliases for Focal Palmoplantar Keratoderma:

Name: Focal Palmoplantar Keratoderma 59
Focal Palmoplantar Hyperkeratosis 59
Focal Keratosis Palmoplantaris 59
Focal Ppk 59

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

ICD10 via Orphanet 34 Q82.8
Orphanet 59 ORPHA307837

Summaries for Focal Palmoplantar Keratoderma

MalaCards based summary : Focal Palmoplantar Keratoderma, also known as focal palmoplantar hyperkeratosis, is related to palmoplantar keratoderma, nonepidermolytic, focal 1 and isolated focal non-epidermolytic palmoplantar keratoderma. An important gene associated with Focal Palmoplantar Keratoderma is TRPV3 (Transient Receptor Potential Cation Channel Subfamily V Member 3), and among its related pathways/superpathways are Developmental Biology and Cytoskeletal Signaling. Affiliated tissues include skin and tongue, and related phenotypes are craniofacial and integument

Related Diseases for Focal Palmoplantar Keratoderma

Diseases related to Focal Palmoplantar Keratoderma via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma, nonepidermolytic, focal 1 33.3 KRT6C KRT16
2 isolated focal non-epidermolytic palmoplantar keratoderma 30.7 TRPV3 KRT16
3 palmoplantar keratosis 30.5 KRT16 GJB2 DSG1
4 keratosis 30.5 GJB2 DSG1
5 pachyonychia congenita 1 29.2 KRT6B KRT6A KRT17 KRT16
6 skin disease 27.8 KRT6A KRT17 KRT16 GJB2 DSG1
7 isolated focal palmoplantar keratoderma 12.5
8 disease with focal palmoplantar keratoderma as a major feature 12.5
9 autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature 12.5
10 autosomal recessive disease with focal palmoplantar keratoderma as a major feature 12.5
11 keratoderma, palmoplantar, with deafness 11.8
12 palmoplantar keratoderma i, striate, focal, or diffuse 11.8
13 palmoplantar keratoderma, nonepidermolytic, focal 2 11.7
14 branchiootic syndrome 1 10.4
15 palmoplantar keratoderma, nonepidermolytic, focal or diffuse 10.4
16 vohwinkel syndrome 10.1
17 palmoplantar keratoderma, epidermolytic 10.1
18 deafness, autosomal recessive 1a 10.1
19 helix syndrome 10.1
20 sensorineural hearing loss 10.1
21 ectodermal dysplasia 10.1
22 nonsyndromic hearing loss and deafness, dfna3 10.1
23 autosomal recessive non-syndromic sensorineural deafness type dfnb 10.1
24 fissured tongue 10.0 KRT6A KRT16
25 palmoplantar keratoderma, nonepidermolytic 10.0 TRPV3 KRT6C KRT16
26 palmoplantar keratoderma, bothnian type 9.8 KRT17 KRT16
27 tinea corporis 9.7 KRT17 KRT16
28 white sponge nevus 1 9.7 KRT6B KRT6A KRT16
29 bowen's disease 9.7 KRT17 KRT16
30 pachyonychia congenita 2 9.7 KRT6B KRT17
31 steatocystoma multiplex 9.6 KRT17 KRT16
32 psoriasis 9.6 KRT17 KRT16
33 epidermoid cysts 9.4 KRT6A KRT17
34 monilethrix 9.4 KRT6A KRT17 KRT16
35 epidermolytic hyperkeratosis 9.3 KRT6A KRT17 KRT16
36 primary cutaneous amyloidosis 9.3 KRT17 KRT16
37 keratoacanthoma 9.3 KRT17 KRT16 DSG1
38 glossitis 9.3 KRT6B KRT6A KRT17
39 median rhomboid glossitis 9.0 KRT6B KRT6A KRT17 KRT16

Graphical network of the top 20 diseases related to Focal Palmoplantar Keratoderma:



Diseases related to Focal Palmoplantar Keratoderma

Symptoms & Phenotypes for Focal Palmoplantar Keratoderma

MGI Mouse Phenotypes related to Focal Palmoplantar Keratoderma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.26 GJB2 KRT16 KRT17 KRT6B
2 integument MP:0010771 9.1 DSG1 GJB2 KRT16 KRT17 KRT6B TRPV3

Drugs & Therapeutics for Focal Palmoplantar Keratoderma

Search Clinical Trials , NIH Clinical Center for Focal Palmoplantar Keratoderma

Genetic Tests for Focal Palmoplantar Keratoderma

Anatomical Context for Focal Palmoplantar Keratoderma

MalaCards organs/tissues related to Focal Palmoplantar Keratoderma:

41
Skin, Tongue

Publications for Focal Palmoplantar Keratoderma

Articles related to Focal Palmoplantar Keratoderma:

(show all 31)
# Title Authors PMID Year
1
Loss-of-function mutation in DSG1 underlies focal palmoplantar keratoderma. 38
30451323 2019
2
Novel mutations in desmoglein 1: focal palmoplantar keratoderma in milder phenotypes. 38
30822367 2019
3
Focal PPK secondary to a novel KRT6C mutation (Pachyonychia congenita-K6c). 38
26301947 2016
4
Efficacy of botulinum toxin in pachyonychia congenita type 1: report of two new cases. 38
26445325 2016
5
A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family. 38
25285920 2015
6
Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family. 38
24357266 2014
7
Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma. 38
23662636 2013
8
How do keratinizing disorders and blistering disorders overlap? 38
23039137 2013
9
Pachyonychia congenita type 2 (Jackson-Lawler syndrome) or PC-17: case report. 38
23683487 2013
10
Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma. 38
22668561 2012
11
Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation. 38
21801157 2011
12
Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma. 38
21789513 2011
13
A novel frameshift mutation in keratin 16 underlies pachyonychia congenita with focal palmoplantar keratoderma. 38
21668426 2011
14
A new variant of Vohwinkel syndrome: a case report. 38
21426869 2011
15
A transient epidermolysis bullosa simplex-like phenotype associated with bexarotene treatment in a G138E KRT5 heterozygote. 38
20849457 2010
16
[Keratin k6c mutations in focal palmoplantar keratoderma]. 38
20470930 2010
17
Mutations in a keratin 6 isomer (K6c) cause a type of focal palmoplantar keratoderma. 38
20081885 2010
18
Keratin K6c mutations cause focal palmoplantar keratoderma. 38
19609311 2010
19
Disadhesion of epidermal keratinocytes: a histologic clue to palmoplantar keratodermas caused by DSG1 mutations. 38
20082890 2010
20
Focal palmoplantar keratoderma with epidermolytic degeneration. 38
18554216 2009
21
A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. 38
18787097 2008
22
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. 38
17993581 2008
23
A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. 38
17719747 2007
24
Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene. 38
16484817 2006
25
Characterization of a 500 kb region on 17q25 and the exclusion of candidate genes as the familial Tylosis Oesophageal Cancer (TOC) locus. 38
12214281 2002
26
Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma. 38
10839714 2000
27
[Pachyonychia congenita. Keratin gene mutations with pleiotropic effect]. 38
10464680 1999
28
Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas. 38
8651714 1996
29
Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC). 38
8776604 1996
30
[Familial circumscribed plantar keratosis with sensorineural hearing loss and sporadic CHILD syndrome]. 38
2525542 1989
31
Clinically specific type of focal palmoplantar keratoderma with sensorineural deafness: an entity. 38
2958375 1987

Variations for Focal Palmoplantar Keratoderma

Expression for Focal Palmoplantar Keratoderma

Search GEO for disease gene expression data for Focal Palmoplantar Keratoderma.

Pathways for Focal Palmoplantar Keratoderma

Pathways related to Focal Palmoplantar Keratoderma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.95 KRT6C KRT6B KRT6A KRT17 KRT16 DSG1
2 11.95 KRT6C KRT6B KRT6A KRT17
3
Show member pathways
11.56 KRT6C KRT6B KRT6A KRT17 KRT16 DSG1
4
Show member pathways
11.29 KRT6C KRT6A KRT17 KRT16

GO Terms for Focal Palmoplantar Keratoderma

Cellular components related to Focal Palmoplantar Keratoderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.72 KRT6C KRT6B KRT6A KRT17 KRT16
2 cytosol GO:0005829 9.7 KRT6C KRT6B KRT6A KRT17 KRT16 GJB2
3 lateral plasma membrane GO:0016328 9.26 GJB2 DSG1
4 keratin filament GO:0045095 9.13 KRT6C KRT6B KRT6A
5 intermediate filament GO:0005882 9.02 KRT6C KRT6B KRT6A KRT17 KRT16

Biological processes related to Focal Palmoplantar Keratoderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.43 KRT6C KRT6B KRT6A KRT17 KRT16 DSG1
2 response to progesterone GO:0032570 9.37 GJB2 DSG1
3 cytoskeleton organization GO:0007010 9.33 KRT6B KRT6A KRT16
4 intermediate filament cytoskeleton organization GO:0045104 9.32 KRT6C KRT16
5 morphogenesis of an epithelium GO:0002009 9.26 KRT6A KRT16
6 epidermis development GO:0008544 9.1 KRT17
7 cornification GO:0070268 9.1 KRT6C KRT6B KRT6A KRT17 KRT16 DSG1

Molecular functions related to Focal Palmoplantar Keratoderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.13 KRT6A KRT17 KRT16
2 structural constituent of cytoskeleton GO:0005200 8.92 KRT6B KRT6A KRT17 KRT16

Sources for Focal Palmoplantar Keratoderma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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