MCID: FCL029
MIFTS: 28

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 58
Focal Palmoplantar Hyperkeratosis 58
Palmoplantar Keratoderma, Focal 6
Focal Keratosis Palmoplantaris 58
Focal Ppk 58

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

ICD10 via Orphanet 33 Q82.8
Orphanet 58 ORPHA307837

Summaries for Focal Palmoplantar Keratoderma

MalaCards based summary : Focal Palmoplantar Keratoderma, also known as focal palmoplantar hyperkeratosis, is related to keratosis and palmoplantar keratoderma, nonepidermolytic, focal 1. An important gene associated with Focal Palmoplantar Keratoderma is KRT16 (Keratin 16), and among its related pathways/superpathways are Developmental Biology and Cytoskeletal Signaling. Affiliated tissues include tongue, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Focal Palmoplantar Keratoderma

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 keratosis 29.5 KRT17 KRT16 GJB2 DSG1
2 palmoplantar keratoderma, nonepidermolytic, focal 1 29.5 TRPV3 KRT6C KRT6B KRT6A KRT16
3 palmoplantar keratosis 29.2 KRT6B KRT6A KRT17 KRT16 GJB2 DSG1
4 ectodermal dysplasia 29.1 KRT17 KRT16 GJB2 DSG1
5 palmoplantar keratoderma, nonepidermolytic, focal or diffuse 29.1 KRT6C KRT6B KRT6A KRT17 KRT16
6 pachyonychia congenita 1 28.9 KRT6C KRT6B KRT6A KRT17 KRT16 DSG1
7 skin disease 28.6 KRT6A KRT17 KRT16 GJB2 DSG1
8 palmoplantar keratoderma, epidermolytic 28.6 KRT6B KRT6A KRT17 KRT16 DSG1
9 keratoderma, palmoplantar, with deafness 11.3
10 palmoplantar keratoderma i, striate, focal, or diffuse 11.3
11 isolated focal palmoplantar keratoderma 11.3
12 disease with focal palmoplantar keratoderma as a major feature 11.3
13 autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature 11.3
14 autosomal recessive disease with focal palmoplantar keratoderma as a major feature 11.3
15 palmoplantar keratoderma, nonepidermolytic, focal 2 11.2
16 branchiootic syndrome 1 10.3
17 ifap syndrome 1, with or without bresheck syndrome 10.1 TRPV3 GJB2
18 vohwinkel syndrome 10.1
19 deafness, autosomal recessive 1a 10.1
20 helix syndrome 10.1
21 sensorineural hearing loss 10.1
22 nonsyndromic hearing loss and deafness, dfna3 10.1
23 nonsyndromic hearing loss and deafness, dfnb1 10.1
24 dfnb1 10.1
25 autosomal recessive non-syndromic sensorineural deafness type dfnb 10.1
26 diffuse palmoplantar keratoderma 10.0 KRT6C DSG1
27 hereditary palmoplantar keratoderma 10.0 GJB2 DSG1
28 fissured tongue 10.0 KRT6A KRT16
29 hidradenitis 9.9 GJB2 DSG1
30 angular cheilitis 9.9 KRT6B KRT6A
31 erythrokeratodermia variabilis et progressiva 1 9.9 GJB2 DSG1
32 tinea corporis 9.9 KRT17 KRT16
33 white sponge nevus 1 9.9 KRT6B KRT6A
34 eccrine papillary adenoma 9.8 KRT17 KRT16
35 borst-jadassohn intraepidermal carcinoma 9.8 KRT17 KRT16
36 familial woolly hair syndrome 9.8 KRT6A DSG1
37 lichen planus 9.8 KRT16 DSG1
38 primary cutaneous amyloidosis 9.8 KRT17 KRT16
39 porokeratosis 9.7 KRT16 GJB2
40 epidermoid cysts 9.7 KRT6A KRT17
41 epidermolysis bullosa simplex 9.7 KRT17 KRT16
42 pachyonychia congenita 2 9.6 KRT6B KRT17 KRT16
43 keratoacanthoma 9.6 KRT17 KRT16 DSG1
44 ichthyosis 9.5 KRT17 KRT16 GJB2
45 median rhomboid glossitis 9.3 KRT6B KRT6A KRT17 KRT16
46 glossitis 9.3 KRT6B KRT6A KRT17 KRT16
47 steatocystoma multiplex 9.3 KRT6B KRT6A KRT17 KRT16
48 monilethrix 9.3 KRT6B KRT6A KRT17 KRT16
49 epidermolytic hyperkeratosis 9.3 KRT6B KRT6A KRT17 KRT16
50 palmoplantar keratoderma, nonepidermolytic 8.9 TRPV3 KRT6C KRT6A KRT17 KRT16 DSG1

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



Diseases related to Focal Palmoplantar Keratoderma

Symptoms & Phenotypes for Focal Palmoplantar Keratoderma

GenomeRNAi Phenotypes related to Focal Palmoplantar Keratoderma according to GeneCards Suite gene sharing:

26 (show all 29)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.89 KRT6B KRT6C
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 9.89 KRT6A KRT6B KRT6C
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.89 KRT6A KRT6C
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-2 9.89 KRT6A
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.89 KRT6A KRT6B KRT6C
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-4 9.89 KRT6A
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-6 9.89 KRT6B
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.89 KRT6B
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-63 9.89 KRT6A KRT6B KRT6C
10 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.87 KRT6A KRT6B
11 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.87 TRPV3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.87 KRT6A KRT6C TRPV3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.87 KRT6A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.87 TRPV3
15 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.87 TRPV3
16 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.87 TRPV3
17 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.87 KRT6A
18 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.87 TRPV3
19 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.87 KRT6A
20 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.87 KRT6C
21 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.87 TRPV3
22 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.87 TRPV3
23 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.87 TRPV3
24 Increased shRNA abundance (Z-score > 2) GR00366-A-33 9.87 KRT6A
25 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.87 KRT6C
26 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.87 KRT6A
27 Increased shRNA abundance (Z-score > 2) GR00366-A-58 9.87 KRT6A
28 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.87 TRPV3
29 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.87 KRT6A

MGI Mouse Phenotypes related to Focal Palmoplantar Keratoderma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 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:

40
Tongue

Publications for Focal Palmoplantar Keratoderma

Articles related to Focal Palmoplantar Keratoderma:

(show all 31)
# Title Authors PMID Year
1
Keratin K6c mutations cause focal palmoplantar keratoderma. 61 6
19609311 2010
2
Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma. 6 61
10839714 2000
3
The genetic basis of pachyonychia congenita. 6
16250206 2005
4
Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families. 6
8595410 1995
5
Novel keratin 16 mutation in a Chinese family with focal palmoplantar keratoderma. 61
33377179 2020
6
Follicular occlusion tetrad in a male patient with pachyonychia congenita: clinical and genetic analysis. 61
31535756 2019
7
Novel mutations in desmoglein 1: focal palmoplantar keratoderma in milder phenotypes. 61
30822367 2019
8
Loss-of-function mutation in DSG1 underlies focal palmoplantar keratoderma. 61
30451323 2019
9
Efficacy of botulinum toxin in pachyonychia congenita type 1: report of two new cases. 61
26445325 2016
10
A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family. 61
25285920 2015
11
Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family. 61
24357266 2014
12
Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma. 61
23662636 2013
13
How do keratinizing disorders and blistering disorders overlap? 61
23039137 2013
14
Pachyonychia congenita type 2 (Jackson-Lawler syndrome) or PC-17: case report. 61
23683487 2013
15
Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma. 61
22668561 2012
16
Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation. 61
21801157 2011
17
Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma. 61
21789513 2011
18
A novel frameshift mutation in keratin 16 underlies pachyonychia congenita with focal palmoplantar keratoderma. 61
21668426 2011
19
A new variant of Vohwinkel syndrome: a case report. 61
21426869 2011
20
A transient epidermolysis bullosa simplex-like phenotype associated with bexarotene treatment in a G138E KRT5 heterozygote. 61
20849457 2010
21
[Keratin k6c mutations in focal palmoplantar keratoderma]. 61
20470930 2010
22
Mutations in a keratin 6 isomer (K6c) cause a type of focal palmoplantar keratoderma. 61
20081885 2010
23
Focal palmoplantar keratoderma with epidermolytic degeneration. 61
18554216 2009
24
A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. 61
18787097 2008
25
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. 61
17993581 2008
26
A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. 61
17719747 2007
27
Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene. 61
16484817 2006
28
Characterization of a 500 kb region on 17q25 and the exclusion of candidate genes as the familial Tylosis Oesophageal Cancer (TOC) locus. 61
12214281 2002
29
[Pachyonychia congenita. Keratin gene mutations with pleiotropic effect]. 61
10464680 1999
30
[Familial circumscribed plantar keratosis with sensorineural hearing loss and sporadic CHILD syndrome]. 61
2525542 1989
31
Clinically specific type of focal palmoplantar keratoderma with sensorineural deafness: an entity. 61
2958375 1987

Variations for Focal Palmoplantar Keratoderma

ClinVar genetic disease variations for Focal Palmoplantar Keratoderma:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KRT16 NM_005557.4(KRT16):c.1244_1270delinsGGC (p.Ala415_Glu424delinsGlyGln) Indel Pathogenic 14610 rs1555573633 17:39766593-39766619 17:41610341-41610367
2 KRT6C NM_173086.5(KRT6C):c.510_512CAA[2] (p.Asn172del) Microsatellite Pathogenic 126525 rs267607474 12:52867004-52867006 12:52473220-52473222
3 KRT6C NM_173086.5(KRT6C):c.1384_1410del (p.Ile462_Glu470del) Deletion Pathogenic 66966 rs267607475 12:52863468-52863494 12:52469684-52469710
4 KRT16 NM_005557.4(KRT16):c.379C>T (p.Arg127Cys) SNV Pathogenic 14601 rs59856285 17:39768562-39768562 17:41612310-41612310
5 KRT16 NM_005557.4(KRT16):c.374A>G (p.Asn125Ser) SNV Pathogenic 14602 rs60723330 17:39768567-39768567 17:41612315-41612315
6 KRT16 NM_005557.4(KRT16):c.374A>G (p.Asn125Ser) SNV Pathogenic 14602 rs60723330 17:39768567-39768567 17:41612315-41612315

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 11.48 KRT17 KRT16 DSG1
5
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 cytosol GO:0005829 9.7 KRT6C KRT6B KRT6A KRT17 KRT16 GJB2
2 lateral plasma membrane GO:0016328 9.26 GJB2 DSG1
3 keratin filament GO:0045095 9.13 KRT6C KRT6B KRT6A
4 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 cytoskeleton organization GO:0007010 9.43 KRT6B KRT6A KRT16
2 keratinization GO:0031424 9.43 KRT6C KRT6B KRT6A KRT17 KRT16 DSG1
3 response to progesterone GO:0032570 9.37 GJB2 DSG1
4 morphogenesis of an epithelium GO:0002009 9.33 KRT6A KRT17 KRT16
5 intermediate filament cytoskeleton organization GO:0045104 9.32 KRT6C KRT16
6 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 constituent of cytoskeleton GO:0005200 8.8 KRT6B KRT6A KRT16

Sources for Focal Palmoplantar Keratoderma

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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