MCID: PLM102
MIFTS: 41

Palmoplantar Keratoderma, Epidermolytic

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Palmoplantar Keratoderma, Epidermolytic

MalaCards integrated aliases for Palmoplantar Keratoderma, Epidermolytic:

Name: Palmoplantar Keratoderma, Epidermolytic 54 50 52
Epidermolytic Palmoplantar Keratoderma 50 24 29 13
Keratosis Palmaris Et Plantaris Familiaris 50 71 69
Epidermolytic Palmoplantar Keratoderma Vorner Type 50 69
Keratoderma, Palmoplantar, Epidermolytic 71 69
Localized Epidermolytic Hyperkeratosis 24 71
Keratosis of Greither 50 71
Eppk 50 71
Diffuse Erythrodermic Palmoplantar Keratoderma, Vörner Type 50
Hyperkeratosis Palmoplantar Localized Epidermolytic 50
Epidermolytic Palmoplantar Keratoderma of Voerner 50
Epidermolytic Palmoplantar Keratoderma of Vörner 50
Palmoplantar Keratoderma, Nonepidermolytic 69
Hyperkeratosis, Localized Epidermolytic 50
Keratoderma, Epidermolytic Palmoplantar 50
Unilateral Palmoplantar Verrucous Nevus 71
Palmoplantar Keratoderma Vorner Type 71
Keratoderma, Palmoplantar, Diffuse 69
Epidermolytic Unna-Thost Disease 71
Vorner Disease 24
Hyperkeratosis 69
Tylosis 71
Ehppk 71
Upvn 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
palmoplantar keratoderma, epidermolytic:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Palmoplantar Keratoderma, Epidermolytic

OMIM : 54
Palmoplantar keratoderma (PPK) is a common hereditary cutaneous disorder characterized by marked hyperkeratosis on the surface of palms and soles (Hennies et al., 1995). PPK has been classified into diffuse, focal, and punctate forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994). Diffuse PPK develops at birth or shortly thereafter and involves the entire palm and sole with a sharp cutoff at an erythematous border; there are no lesions outside the volar skin, and, in particular, no follicular or oral lesions. In contrast, focal PPK is a late-onset form in which focal hyperkeratotic lesions develop in response to mechanical trauma; an important distinguishing feature is the presence of lesions at other body sites, e.g., oral and follicular hyperkeratosis (Stevens et al., 1996). Palmoplantar keratodermas can be further subdivided histologically into epidermolytic and nonepidermolytic PPK (Risk et al., 1994). (144200)

MalaCards based summary : Palmoplantar Keratoderma, Epidermolytic, also known as epidermolytic palmoplantar keratoderma, is related to squamous cell carcinoma and tylosis with esophageal cancer, and has symptoms including palmoplantar keratoderma, hyperhidrosis and eczema. An important gene associated with Palmoplantar Keratoderma, Epidermolytic is KRT9 (Keratin 9), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and integument

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on palmoplantar keratoderma.

UniProtKB/Swiss-Prot : 71 Keratoderma, palmoplantar, epidermolytic: A dermatological disorder characterized by diffuse thickening of the epidermis on the entire surface of palms and soles sharply bordered with erythematous margins. Some patients may present knuckle pads, thick pads of skin appearing over the proximal phalangeal joints. Unilateral palmoplantar verrucous nevus: UPVN is characterized by a localized epidermolytic hyperkeratosis in parts of the right palm and the right sole, following the lines of Blaschko.

Related Diseases for Palmoplantar Keratoderma, Epidermolytic

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

(show all 40)
id Related Disease Score Top Affiliating Genes
1 squamous cell carcinoma 29.8 KRT1 KRT9
2 tylosis with esophageal cancer 12.3
3 ankylosing vertebral hyperostosis with tylosis 12.0
4 palmoplantar keratoderma, nonepidermolytic 11.8
5 naxos disease 11.2
6 cardiomyopathy, dilated, with woolly hair and keratoderma 11.1
7 palmoplantar keratoderma, bothnian type 11.1
8 epidermolytic hyperkeratosis 11.0
9 marburg hemorrhagic fever 10.2 KRT1 KRT9
10 bamforth-lazarus syndrome 10.1 KRT1 KRT9
11 esophagitis 9.9
12 leukoplakia 9.9
13 esophageal cancer 9.9
14 oral leukoplakia 9.9
15 retinitis pigmentosa 30 9.7 KRT1 KRT16
16 melanoma 9.7
17 hyperostosis 9.7
18 beckwith-wiedemann syndrome 9.7
19 birt-hogg-dube syndrome 9.7
20 incontinentia pigmenti 9.7
21 steatocystoma multiplex 9.7 KRT16 KRT17
22 dicrocoeliasis 9.7 KRT16 KRT17
23 bacteriuria 9.6 KRT16 KRT17
24 sclerosteosis 1 9.6 KRT16 KRT17
25 boylan dew greco syndrome 9.6 KRT16 KRT17
26 epidermolysis bullosa simplex, dowling-meara type 9.6 KRT1 KRT16 KRT9
27 carotid artery disease 9.6 KRT1 KRT16 KRT9
28 telangiectasia, hereditary hemorrhagic, type 2 9.6 KRT1 KRT16 KRT9
29 papilledema 9.6 KRT16 KRT17
30 small non-cleaved cell lymphoma 9.5 KRT1 KRT16 KRT9
31 hand dermatosis 9.5 KRT16 KRT17
32 hypochromic microcytic anemia 9.5 KRT16 KRT17
33 bilateral retinoblastoma 9.4 KRT1 KRT17
34 breast leiomyoma 9.4 KRT1 KRT17 KRT9
35 palmoplantar keratoderma, nonepidermolytic, focal 9.3 KRT16 KRT17 KRT9
36 ectodermal dysplasia 4, hair/nail type 9.3 KRT16 KRT17 KRT9
37 tinea nigra 9.1 KRT16 KRT17
38 basal cell carcinoma 4 8.8 KRT1 KRT16 KRT17 KRT9
39 ichthyosis, cyclic, with epidermolytic hyperkeratosis 8.8 KRT1 KRT16 KRT17 KRT9
40 keratosis palmoplantaris striata iii 8.3 EVPL KRT1 KRT16 KRT17 KRT9

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



Diseases related to Palmoplantar Keratoderma, Epidermolytic

Symptoms & Phenotypes for Palmoplantar Keratoderma, Epidermolytic

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Skin Electron Microscopy:
aggregated tonofilaments at cell surface
cytolysis of keratinocytes in spinous and granular layers

Skin Nails & Hair- Skin:
palmoplantar epidermolytic hyperkeratosis along blaschko lines (rare)
hyperkeratosis on dorsal surface of fingers and toes (knuckle pads, in some patients)
thick, waxy skin of palms and soles with well-defined erythematous border
keratosis palmaris
keratosis plantaris
more
Skin Nails & Hair- Skin Histology:
perinuclear vacuolization of keratinocytes
thickened granular layer of epidermis
large irregularly shaped keratohyalin granules


Clinical features from OMIM:

144200

Human phenotypes related to Palmoplantar Keratoderma, Epidermolytic:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 32 hallmark (90%) HP:0000982
2 hyperhidrosis 32 frequent (33%) HP:0000975
3 eczema 32 frequent (33%) HP:0000964
4 erythema 32 hallmark (90%) HP:0010783
5 palmoplantar hyperkeratosis 32 HP:0000972
6 localized epidermolytic hyperkeratosis 32 hallmark (90%) HP:0007559
7 abnormality of the fingernails 32 frequent (33%) HP:0001231
8 verrucae 32 hallmark (90%) HP:0200043
9 increased ige level 32 HP:0003212

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.6 KRT17
2 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.6 KRT1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.6 KRT1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.6 KRT1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.6 KRT17
6 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.6 KRT1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.6 KRT1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.6 KRT17
9 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.6 KRT17 KRT1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.6 KRT1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.6 KRT17
12 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.6 KRT17
13 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.6 KRT17
14 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.6 KRT17
15 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.6 KRT17
16 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.6 KRT17
17 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.6 KRT17
18 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.6 KRT1

MGI Mouse Phenotypes related to Palmoplantar Keratoderma, Epidermolytic:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.92 EVPL KRT1 KRT16 KRT17

Drugs & Therapeutics for Palmoplantar Keratoderma, Epidermolytic

Search Clinical Trials , NIH Clinical Center for Palmoplantar Keratoderma, Epidermolytic

Genetic Tests for Palmoplantar Keratoderma, Epidermolytic

Genetic tests related to Palmoplantar Keratoderma, Epidermolytic:

id Genetic test Affiliating Genes
1 Epidermolytic Palmoplantar Keratoderma 29 24 KRT9 KRT1

Anatomical Context for Palmoplantar Keratoderma, Epidermolytic

MalaCards organs/tissues related to Palmoplantar Keratoderma, Epidermolytic:

39
Skin

Publications for Palmoplantar Keratoderma, Epidermolytic

Variations for Palmoplantar Keratoderma, Epidermolytic

UniProtKB/Swiss-Prot genetic disease variations for Palmoplantar Keratoderma, Epidermolytic:

71 (show all 21)
id Symbol AA change Variation ID SNP ID
1 KRT9 p.Asn161Lys VAR_003822 rs57536312
2 KRT9 p.Arg163Gln VAR_003823 rs57758262
3 KRT9 p.Arg163Trp VAR_003824 rs59616921
4 KRT9 p.Leu168Ser VAR_003825 rs61157095
5 KRT9 p.Met157Thr VAR_010499 rs59510579
6 KRT9 p.Met157Val VAR_010500 rs58597584
7 KRT9 p.Leu160Val VAR_010501 rs28940896
8 KRT9 p.Asn161Ser VAR_010502 rs56707768
9 KRT9 p.Asn161Tyr VAR_010503 rs59296273
10 KRT9 p.Gln172Pro VAR_010504 rs59878153
11 KRT9 p.Leu160Phe VAR_035438 rs28940896
12 KRT9 p.Val171Met VAR_035439 rs57019720
13 KRT9 p.Met157Arg VAR_036805 rs59510579
14 KRT9 p.Asn161His VAR_036806 rs59296273
15 KRT9 p.Asn161Ile VAR_036807 rs56707768
16 KRT9 p.Arg163Pro VAR_036808 rs57758262
17 KRT9 p.Leu458Phe VAR_036810 rs58120120
18 KRT9 p.Met157Lys VAR_071977 rs59510579
19 KRT9 p.Cys406Arg VAR_071978 rs77688767
20 KRT9 p.Tyr454His VAR_071979 rs267607420
21 KRT9 p.Leu458Pro VAR_071980

ClinVar genetic disease variations for Palmoplantar Keratoderma, Epidermolytic:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 KRT9 NM_000226.3(KRT9): c.487C> T (p.Arg163Trp) single nucleotide variant Pathogenic rs59616921 GRCh37 Chromosome 17, 39727758: 39727758
2 KRT9 NM_000226.3(KRT9): c.515A> C (p.Gln172Pro) single nucleotide variant Pathogenic rs59878153 GRCh37 Chromosome 17, 39727730: 39727730
3 KRT9 NM_000226.3(KRT9): c.481A> T (p.Asn161Tyr) single nucleotide variant Pathogenic rs59296273 GRCh37 Chromosome 17, 39727764: 39727764
4 KRT9 NM_000226.3(KRT9): c.483T> A (p.Asn161Lys) single nucleotide variant Pathogenic rs57536312 GRCh37 Chromosome 17, 39727762: 39727762
5 KRT9 NM_000226.3(KRT9): c.488G> A (p.Arg163Gln) single nucleotide variant Pathogenic rs57758262 GRCh37 Chromosome 17, 39727757: 39727757
6 KRT9 NM_000226.3(KRT9): c.469A> G (p.Met157Val) single nucleotide variant Pathogenic rs58597584 GRCh37 Chromosome 17, 39727776: 39727776
7 KRT9 NM_000226.3(KRT9): c.482A> G (p.Asn161Ser) single nucleotide variant Pathogenic rs56707768 GRCh37 Chromosome 17, 39727763: 39727763
8 KRT9 NM_000226.3(KRT9): c.503T> C (p.Leu168Ser) single nucleotide variant Pathogenic rs61157095 GRCh37 Chromosome 17, 39727742: 39727742
9 KRT9 NM_000226.3(KRT9): c.478C> G (p.Leu160Val) single nucleotide variant Pathogenic rs28940896 GRCh37 Chromosome 17, 39727767: 39727767
10 KRT9 NM_000226.3(KRT9): c.470T> C (p.Met157Thr) single nucleotide variant Pathogenic rs59510579 GRCh37 Chromosome 17, 39727775: 39727775
11 KRT9 NM_000226.3(KRT9): c.511G> A (p.Val171Met) single nucleotide variant Pathogenic rs57019720 GRCh37 Chromosome 17, 39727734: 39727734
12 KRT1 KRT1, IVS6, G-A, +1 single nucleotide variant Pathogenic

Expression for Palmoplantar Keratoderma, Epidermolytic

Search GEO for disease gene expression data for Palmoplantar Keratoderma, Epidermolytic.

Pathways for Palmoplantar Keratoderma, Epidermolytic

Pathways related to Palmoplantar Keratoderma, Epidermolytic according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 EVPL KRT1 KRT16 KRT17 KRT9
2
Show member pathways
11.48 EVPL KRT1 KRT16 KRT17 KRT9
3
Show member pathways
11.29 EVPL KRT1 KRT16 KRT17

GO Terms for Palmoplantar Keratoderma, Epidermolytic

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

id Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.72 EVPL KRT1 KRT16 KRT17 KRT9
2 extracellular exosome GO:0070062 9.35 EVPL KRT1 KRT16 KRT17 KRT9
3 cornified envelope GO:0001533 9.26 EVPL KRT1
4 intermediate filament cytoskeleton GO:0045111 9.16 EVPL KRT17
5 intermediate filament GO:0005882 8.92 KRT1 KRT16 KRT17 KRT9

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

id Name GO ID Score Top Affiliating Genes
1 epidermis development GO:0008544 9.46 EVPL KRT16 KRT17 KRT9
2 keratinocyte differentiation GO:0030216 9.4 EVPL KRT16
3 peptide cross-linking GO:0018149 9.37 EVPL KRT1
4 keratinization GO:0031424 9.35 EVPL KRT1 KRT16 KRT17 KRT9
5 establishment of skin barrier GO:0061436 9.32 KRT1 KRT16
6 intermediate filament organization GO:0045109 9.26 KRT17 KRT9
7 cornification GO:0070268 9.02 EVPL KRT1 KRT16 KRT17 KRT9

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

id Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.13 KRT16 KRT17 KRT9
2 structural molecule activity GO:0005198 8.92 EVPL KRT1 KRT16 KRT17

Sources for Palmoplantar Keratoderma, Epidermolytic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
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48 NDF-RT
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54 OMIM
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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