MCID: DFF038
MIFTS: 31

Diffuse Palmoplantar Keratoderma

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Diffuse Palmoplantar Keratoderma

MalaCards integrated aliases for Diffuse Palmoplantar Keratoderma:

Name: Diffuse Palmoplantar Keratoderma 58 29
Diffuse Palmoplantar Hyperkeratosis 58 6
Diffuse Keratosis Palmoplantaris 58
Diffuse Ppk 58

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 72 C0022584
Orphanet 58 ORPHA307141

Summaries for Diffuse Palmoplantar Keratoderma

MalaCards based summary : Diffuse Palmoplantar Keratoderma, also known as diffuse palmoplantar hyperkeratosis, is related to palmoplantar keratoderma, bothnian type and naxos disease. An important gene associated with Diffuse Palmoplantar Keratoderma is CARD14 (Caspase Recruitment Domain Family Member 14), and among its related pathways/superpathways are Developmental Biology and Cytoskeletal Signaling. Affiliated tissues include skin, heart and lung, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Diffuse Palmoplantar Keratoderma

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

(show top 50) (show all 105)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma, bothnian type 32.9 KRT9 KRT1
2 naxos disease 31.7 JUP DSP DSG1
3 hereditary palmoplantar keratoderma 30.3 KRT9 DSG1
4 striate palmoplantar keratoderma 30.0 KRT1 DSP DSG1
5 ichthyosis hystrix, curth-macklin type 29.9 KRT5 KRT1
6 epidermolysis bullosa simplex with mottled pigmentation 29.7 KRT5 DSP
7 keratosis 29.7 KRT9 KRT5 KRT1 DSP
8 ectodermal dysplasia 29.7 JUP DSP DSG1
9 epidermolysis bullosa 29.3 KRT5 KRT1 KLHL24 DSP
10 epidermolysis bullosa simplex 29.3 KRT5 KRT1 KLHL24 DSP
11 palmoplantar keratoderma, epidermolytic 29.2 KRT9 KRT5 KRT1 DSG1
12 palmoplantar keratoderma, nonepidermolytic 28.7 RHBDF2 KRT6C KRT1 JUP DSP DSG1
13 palmoplantar keratosis 28.3 RHBDF2 KRT9 KRT5 KRT1 JUP DSP
14 pachyonychia congenita 1 27.8 RHBDF2 KRT9 KRT6C KRT5 KRT1 DSP
15 disease with diffuse palmoplantar keratoderma as a major feature 12.5
16 isolated diffuse palmoplantar keratoderma 12.5
17 autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature 12.5
18 diffuse palmoplantar keratoderma-acrocyanosis syndrome 12.5
19 autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature 12.5
20 autosomal recessive isolated diffuse palmoplantar keratoderma 12.5
21 autosomal dominant isolated diffuse palmoplantar keratoderma 12.5
22 palmoplantar keratoderma, nonepidermolytic, focal or diffuse 12.3
23 keratoderma, palmoplantar, with deafness 12.2
24 erythrokeratodermia variabilis et progressiva 1 12.1
25 unna-thost palmoplantar keratoderma 11.7
26 palmoplantar keratoderma i, striate, focal, or diffuse 11.7
27 pityriasis rubra pilaris 11.6
28 skin fragility-woolly hair syndrome 11.6
29 corneodermatoosseous syndrome 11.4
30 vohwinkel syndrome 11.4
31 tylosis with esophageal cancer 11.4
32 bart-pumphrey syndrome 11.4
33 papillon-lefevre syndrome 11.4
34 mal de meleda 11.4
35 epidermolysis bullosa simplex, generalized, with scarring and hair loss 11.4
36 keratoderma palmoplantaris transgrediens 11.4
37 branchiootic syndrome 1 10.3
38 erythrokeratoderma ''en cocardes'' 10.3
39 bullous skin disease 10.2 DSP DSG1
40 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.1 DSP DSG1
41 autoimmune disease 10.1
42 clouston syndrome 10.1
43 epidermoid cysts 10.1
44 systemic lupus erythematosus 10.1
45 small cell cancer of the lung 10.1
46 strabismus 10.1
47 lung cancer 10.1
48 myasthenia gravis 10.1
49 myeloma, multiple 10.1
50 thymoma, familial 10.1

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



Diseases related to Diffuse Palmoplantar Keratoderma

Symptoms & Phenotypes for Diffuse Palmoplantar Keratoderma

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-138 9.36 JUP
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-143 9.36 JUP
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.36 JUP
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.36 KRT5
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.36 JUP
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-182 9.36 KRT5
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.36 KRT5
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.36 JUP
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-74 9.36 JUP
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-82 9.36 KRT1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.36 KRT1

MGI Mouse Phenotypes related to Diffuse Palmoplantar Keratoderma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.23 CARD14 DSG1 DSP JUP KRT1 KRT5

Drugs & Therapeutics for Diffuse Palmoplantar Keratoderma

Search Clinical Trials , NIH Clinical Center for Diffuse Palmoplantar Keratoderma

Genetic Tests for Diffuse Palmoplantar Keratoderma

Genetic tests related to Diffuse Palmoplantar Keratoderma:

# Genetic test Affiliating Genes
1 Diffuse Palmoplantar Keratoderma 29

Anatomical Context for Diffuse Palmoplantar Keratoderma

MalaCards organs/tissues related to Diffuse Palmoplantar Keratoderma:

40
Skin, Heart, Lung, Thyroid, T Cells

Publications for Diffuse Palmoplantar Keratoderma

Articles related to Diffuse Palmoplantar Keratoderma:

(show all 50)
# Title Authors PMID Year
1
Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma. 61
31944258 2020
2
Papillon-Lefèvre Syndrome: Diagnosis, Dental Management, and a Case Report. 61
31179131 2019
3
Novel Splice-Site Mutation of KRT1 Underlies Diffuse Palmoplantar Keratoderma in a Large Chinese Pedigree. 61
30452289 2018
4
Diffuse Palmoplantar Keratoderma, Onychodystrophy, universal Hypotrichosis and Cysts. 61
28871934 2017
5
Immunohistological study of tight junction protein expression in mal de Meleda. 61
26986447 2016
6
Kindler Syndrome 61
26937547 2016
7
Ineffectiveness of tumor necrosis factor-α blockers and ustekinumab in a case of type IV pityriasis rubra pilaris. 61
26009720 2015
8
[Ainhum and "African acral keratoderma": three cases]. 61
25624138 2015
9
Next-generation sequencing detection and characterization of a heterozygous novel splice junction mutation in the 2B domain of KRT1 in a family with diffuse palmoplantar keratoderma. 61
25429721 2015
10
IL-22/STAT3-Induced Increases in SLURP1 Expression within Psoriatic Lesions Exerts Antimicrobial Effects against Staphylococcus aureus. 61
26474319 2015
11
Papillon-Lefèvre syndrome: clinical presentation and management options. 61
26203280 2015
12
Oral rehabilitation of a case of Papillon-Lefevre syndrome with dental implants. 61
23552598 2013
13
Papillon- Lefèvre Syndrome: Report of a case and its management. 61
24558530 2012
14
A new variant of Vohwinkel syndrome: a case report. 61
21426869 2011
15
Papillon-Lefevre syndrome with pseudoainhum. 61
23130191 2010
16
Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children. 61
20130592 2010
17
Palmoplantar keratoderma as the initial sign in a peripheral T-cell lymphoma. 61
20492820 2010
18
Autoimmune thyroiditis presenting as palmoplantar keratoderma. 61
20300544 2010
19
Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree. 61
19470048 2009
20
Keratitis-ichthyosis-deafness (KID) syndrome. 61
19891919 2009
21
Juvenile pityriasis rubra pilaris: report of 28 cases in Taiwan. 61
18819727 2008
22
[Papillon-Lefevre syndrome: a case report]. 61
18306641 2007
23
Capecitabine-induced diffuse palmoplantar keratoderma: is it a sequential event of hand-foot syndrome? 61
17509060 2007
24
[Pathological features and gene mutation analysis in two pedigrees of diffuse palmoplantar keratoderma]. 61
17369150 2007
25
A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type. 61
16417221 2006
26
[Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family]. 61
16320579 2005
27
A case of Schöpf-Schulz-Passarge syndrome. 61
16045686 2005
28
Multiple myeloma in a patient with systemic lupus erythematosus, myasthenia gravis and non-familial diffuse palmoplantar keratoderma. 61
15223654 2004
29
Greither's disease. 61
17642916 2003
30
Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates. 61
12483299 2003
31
Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high-performance liquid chromatography. 61
12072061 2002
32
Non-small-cell lung cancer with nonfamilial diffuse palmoplantar keratoderma. 61
12071528 2002
33
Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. 61
11841538 2002
34
Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene. 61
10597140 1999
35
A case of Unna-Thost disease accompanied by Epidermophyton floccosum infection. 61
10063215 1999
36
Palmoplantar keratoderma associated with congenital heart disease. 61
9580809 1998
37
Dermatomyositis with a pityriasis rubra pilaris-like eruption: a little-known distinctive cutaneous manifestation of dermatomyositis. 61
9205515 1997
38
Haber's syndrome. 61
9159964 1997
39
Diffuse palmoplantar keratoderma associated with acrocyanosis and livedo reticularis. Two sporadic cases. 61
8578969 1995
40
The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13. 61
7531539 1994
41
Natural history of the Naegeli-Franceschetti-Jadassohn syndrome and further delineation of its clinical manifestations. 61
8496458 1993
42
Nonfamilial diffuse palmoplantar keratoderma associated with bronchial carcinoma. 61
8436642 1993
43
Keratosis extremitatum (Greither's disease): clinical features, histology, ultrastructure. 61
8274799 1993
44
Hereditary palmoplantar keratosis of the Gamborg Nielsen type. Clinical and ultrastructural characteristics of a new type of autosomal recessive palmoplantar keratosis. 61
2260881 1990
45
[Familial coexistence of erythrokeratodermia variabilis and keratosis palmoplantaris transgrediens et progrediens]. 61
2523877 1989
46
Diffuse palmoplantar keratoderma associated with acrocyanosis. A family study. 61
2564235 1989
47
[Keratosis palmoplantaris diffuse circumscripta (Thost-Unna) with micropenis]. 61
2967596 1988
48
Papillon-Lefèvre syndrome. Report of two patients treated successfully with isotretinoin. 61
2941463 1986
49
Corneal changes, hyperkeratosis, short stature, brachydactyly, and premature birth: a new autosomal dominant syndrome. 61
6234802 1984
50
Diffuse palmoplantar keratoderma with deafness. 61
6213205 1982

Variations for Diffuse Palmoplantar Keratoderma

ClinVar genetic disease variations for Diffuse Palmoplantar Keratoderma:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DSG1 NM_001942.4(DSG1):c.1176T>G (p.Tyr392Ter)SNV Likely pathogenic 374188 rs761241711 18:28916487-28916487 18:31336524-31336524

Expression for Diffuse Palmoplantar Keratoderma

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

Pathways for Diffuse Palmoplantar Keratoderma

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 RARG KRT9 KRT6C KRT5 KRT1 JUP
2 11.99 KRT6C KRT5 JUP
3
Show member pathways
11.62 KRT9 KRT6C KRT5 KRT1 JUP DSP
4
Show member pathways
11.49 KRT6C KRT5 KRT1 DSP
5 11.12 JUP DSP
6 10.76 JUP DSP

GO Terms for Diffuse Palmoplantar Keratoderma

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.88 KRT9 KRT6C KRT5 KRT1 JUP DSP
2 cell-cell junction GO:0005911 9.54 JUP DSP DSG1
3 keratin filament GO:0045095 9.5 KRT6C KRT5 KRT1
4 cytoplasmic side of plasma membrane GO:0009898 9.46 JUP DSG1
5 cornified envelope GO:0001533 9.46 KRT1 JUP DSP DSG1
6 intercalated disc GO:0014704 9.43 JUP DSP
7 fascia adherens GO:0005916 9.26 JUP DSP
8 desmosome GO:0030057 9.26 KLHL24 JUP DSP DSG1
9 intermediate filament GO:0005882 9.1 KRT9 KRT6C KRT5 KRT1 JUP DSP

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.73 KRT1 JUP DSP DSG1
2 cell-cell adhesion GO:0098609 9.63 JUP DSP DSG1
3 epidermis development GO:0008544 9.58 KRT9 KRT5 DSP
4 adherens junction organization GO:0034332 9.52 JUP DSP
5 regulation of heart rate by cardiac conduction GO:0086091 9.51 JUP DSP
6 keratinization GO:0031424 9.5 KRT9 KRT6C KRT5 KRT1 JUP DSP
7 peptide cross-linking GO:0018149 9.49 KRT1 DSP
8 intermediate filament cytoskeleton organization GO:0045104 9.48 KRT6C DSP
9 skin development GO:0043588 9.43 KRT9 JUP DSP
10 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.37 JUP DSP
11 intermediate filament organization GO:0045109 9.33 KRT9 KLHL24 DSP
12 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.32 JUP DSP
13 cornification GO:0070268 9.17 KRT9 KRT6C KRT5 KRT1 JUP DSP

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

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.33 KRT9 JUP DSP
2 scaffold protein binding GO:0097110 9.26 KRT5 DSP
3 structural constituent of cytoskeleton GO:0005200 9.13 KRT9 KRT5 DSP
4 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.62 JUP DSP

Sources for Diffuse Palmoplantar Keratoderma

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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