PPKNEFD
MCID: PLM131
MIFTS: 34

Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse (PPKNEFD)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse

MalaCards integrated aliases for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse:

Name: Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse 56 29 6 71
Ppknefd 56 12 73
Autosomal Dominant Focal Non-Epidermolytic Palmoplantar Keratoderma with Plantar Blistering 12 58
Focal or Diffuse Nonepidermolytic Palmoplantar Keratoderma 12 15
Palmoplantar Keratoderma, Non-Epidermolytic, Focal or Diffuse 73
Keratoderma, Palmoplantar, Nonepidermolytic, Focal or Diffuse 39
Nonepidermolytic Focal or Diffuse Palmoplantar Keratoderma 73

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
some patients have only plantar surface involvement


HPO:

31
palmoplantar keratoderma, nonepidermolytic, focal or diffuse:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0111710
OMIM 56 615735
MeSH 43 D007645
ICD10 via Orphanet 33 Q82.8
Orphanet 58 ORPHA402003
SNOMED-CT via HPO 68 263681008 706885006
UMLS 71 C3810394

Summaries for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse

UniProtKB/Swiss-Prot : 73 Palmoplantar keratoderma, non-epidermolytic, focal or diffuse: A dermatological disorder characterized by non-epidermolytic abnormal thickening of the skin on the palms and soles. Diffuse palmoplantar keratoderma is characterized by uniform involvement of the palmoplantar surface, while the focal form consists of localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction.

MalaCards based summary : Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse, also known as ppknefd, is related to palmoplantar keratoderma, bothnian type and angular cheilitis. An important gene associated with Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse is KRT6C (Keratin 6C), and among its related pathways/superpathways are Developmental Biology and Cytoskeletal Signaling. Affiliated tissues include skin, and related phenotypes are palmoplantar keratoderma and epidermal acanthosis

Disease Ontology : 12 A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has material basis in heterozygous mutation in KRT6C on chromosome 12q13.13.

More information from OMIM: 615735

Related Diseases for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse

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

(show all 28)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma, bothnian type 31.9 KRT17 KRT16
2 angular cheilitis 10.2 KRT6B KRT6A
3 fissured tongue 10.2 KRT6A KRT16
4 epidermoid cysts 10.1 KRT6A KRT17
5 white sponge nevus 1 10.1 KRT6B KRT6A
6 tinea corporis 10.1 KRT17 KRT16
7 loose anagen hair syndrome 10.0 KRT75 KRT72
8 palmoplantar keratoderma, nonepidermolytic 10.0 KRT6C KRT6A KRT16
9 keratoacanthoma 9.9 KRT17 KRT16
10 familial woolly hair syndrome 9.9 KRT75 KRT6A
11 pachyonychia congenita 2 9.9 KRT6B KRT17 KRT16
12 primary cutaneous amyloidosis 9.9 KRT17 KRT16
13 palmoplantar keratoderma, epidermolytic 9.9 KRT6A KRT17 KRT16
14 autosomal recessive congenital ichthyosis 9.8 KRT6B KRT6A KRT16
15 palmoplantar keratoderma, nonepidermolytic, focal 1 9.8 KRT6C KRT6B KRT6A KRT16
16 enamel caries 9.7 TUFT1 AMELX
17 amelogenesis imperfecta, type ie 9.7 TUFT1 AMELX
18 median rhomboid glossitis 9.7 KRT6B KRT6A KRT17 KRT16
19 glossitis 9.7 KRT6B KRT6A KRT17 KRT16
20 epidermolysis bullosa simplex 9.7 KRT17 KRT16
21 steatocystoma multiplex 9.7 KRT6B KRT6A KRT17 KRT16
22 dental fluorosis 9.6 TUFT1 AMELX
23 palmoplantar keratosis 9.6 KRT6B KRT6A KRT17 KRT16
24 monilethrix 9.6 KRT6B KRT6A KRT17 KRT16
25 epidermolytic hyperkeratosis 9.6 KRT6B KRT6A KRT17 KRT16
26 focal palmoplantar keratoderma 9.5 KRT6C KRT6B KRT6A KRT17 KRT16
27 teeth hard tissue disease 9.4 TUFT1 AMELX
28 pachyonychia congenita 1 8.8 KRT75 KRT72 KRT6C KRT6B KRT6A KRT17

Graphical network of the top 20 diseases related to Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse:



Diseases related to Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse

Symptoms & Phenotypes for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse

Human phenotypes related to Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse:

31
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 31 HP:0000982
2 epidermal acanthosis 31 HP:0025092

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin Histology:
acanthosis
nonepidermolytic orthohyperkeratosis

Skin Nails Hair Skin:
palmoplantar keratoderma, focal
palmoplantar keratoderma, diffuse (in some patients)
plantar blistering
hyperhidrosis of plantar surface (in some patients)
clavus formation (rare)

Head And Neck Mouth:
mild leukokeratosis of buccal bite line (in some patients)

Skin Nails Hair Nails:
hypertrophic nail changes, mild (in some patients)
splinter hemorrhages of nails (in some patients)

Clinical features from OMIM:

615735

GenomeRNAi Phenotypes related to Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse according to GeneCards Suite gene sharing:

26 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 10.15 KRT6B KRT6C KRT75
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 10.15 KRT6A KRT6B KRT6C
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 10.15 KRT6A KRT6C KRT75
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-2 10.15 KRT6A
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.15 KRT6A KRT6B KRT6C
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-4 10.15 KRT6A
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-6 10.15 KRT6B
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 10.15 KRT6B
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-63 10.15 KRT6A KRT6B KRT6C
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 10.15 KRT75
11 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.28 KRT6B
12 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.28 KRT6C
13 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.28 KRT75
14 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.28 KRT75
15 Increased shRNA abundance (Z-score > 2) GR00366-A-17 9.28 KRT75
16 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.28 KRT75
17 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.28 KRT6C
18 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.28 KRT6C
19 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.28 KRT75

MGI Mouse Phenotypes related to Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.35 BMP7 KRT16 KRT17 KRT6B SETD2
2 integument MP:0010771 9.1 BMP7 KRT16 KRT17 KRT6B KRT75 TUFT1

Drugs & Therapeutics for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse

Search Clinical Trials , NIH Clinical Center for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse

Genetic Tests for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse

Genetic tests related to Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse:

# Genetic test Affiliating Genes
1 Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse 29 KRT6C

Anatomical Context for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse

MalaCards organs/tissues related to Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse:

40
Skin

Publications for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse

Articles related to Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse:

# Title Authors PMID Year
1
Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma. 6 56
23662636 2013
2
Keratin K6c mutations cause focal palmoplantar keratoderma. 56 6
19609311 2010
3
Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation. 56
21801157 2011
4
Mutations in a keratin 6 isomer (K6c) cause a type of focal palmoplantar keratoderma. 56
20081885 2010
5
Pachyonychia Congenita 6
20301457 2006

Variations for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse

ClinVar genetic disease variations for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KRT6C NM_173086.5(KRT6C):c.1414G>A (p.Glu472Lys)SNV Pathogenic 126527 rs587777292 12:52863464-52863464 12:52469680-52469680

UniProtKB/Swiss-Prot genetic disease variations for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse:

73
# Symbol AA change Variation ID SNP ID
1 KRT6C p.Glu472Lys VAR_071309 rs587777292

Expression for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse

Search GEO for disease gene expression data for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse.

Pathways for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse

Pathways related to Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.91 KRT75 KRT72 KRT6C KRT6B KRT6A KRT17
2 12.05 KRT6C KRT6B KRT6A KRT17
3
Show member pathways
11.62 KRT75 KRT72 KRT6C KRT6B KRT6A KRT17
4
Show member pathways
11.29 KRT6C KRT6A KRT17 KRT16

GO Terms for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse

Cellular components related to Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.63 KRT75 KRT72 KRT6C KRT6B KRT6A KRT16
2 keratin filament GO:0045095 9.35 KRT75 KRT72 KRT6C KRT6B KRT6A
3 intermediate filament GO:0005882 9.17 KRT75 KRT72 KRT6C KRT6B KRT6A KRT17

Biological processes related to Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.5 KRT75 KRT72 KRT6C KRT6B KRT6A KRT17
2 odontogenesis of dentin-containing tooth GO:0042475 9.43 BMP7 AMELX
3 cytoskeleton organization GO:0007010 9.43 KRT6B KRT6A KRT16
4 epithelial to mesenchymal transition GO:0001837 9.4 BMP7 AMELX
5 biomineral tissue development GO:0031214 9.37 TUFT1 AMELX
6 morphogenesis of an epithelium GO:0002009 9.33 KRT6A KRT17 KRT16
7 intermediate filament cytoskeleton organization GO:0045104 9.32 KRT6C KRT16
8 cornification GO:0070268 9.17 KRT75 KRT72 KRT6C KRT6B KRT6A KRT17

Molecular functions related to Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.33 KRT75 KRT17 KRT16
2 structural constituent of cytoskeleton GO:0005200 9.13 KRT6B KRT6A KRT16
3 structural constituent of tooth enamel GO:0030345 8.62 TUFT1 AMELX

Sources for Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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