MCID: DFF038
MIFTS: 32

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 59 29
Diffuse Palmoplantar Hyperkeratosis 59 6
Diffuse Keratosis Palmoplantaris 59
Diffuse Ppk 59

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

ICD10 via Orphanet 34 Q82.8
UMLS via Orphanet 73 C0022584
Orphanet 59 ORPHA307141

Summaries for Diffuse Palmoplantar Keratoderma

MalaCards based summary : Diffuse Palmoplantar Keratoderma, also known as diffuse palmoplantar hyperkeratosis, is related to diffuse palmoplantar keratoderma, bothnian type and palmoplantar keratoderma, bothnian type. An important gene associated with Diffuse Palmoplantar Keratoderma is AQP5 (Aquaporin 5), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include skin, heart and lung, and related phenotype is integument.

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 97)
# Related Disease Score Top Affiliating Genes
1 diffuse palmoplantar keratoderma, bothnian type 34.8 LOC101927318 AQP5
2 palmoplantar keratoderma, bothnian type 33.3 LOC101927318 KRT9 AQP5
3 naxos disease 32.4 JUP DSP
4 palmoplantar keratoderma, epidermolytic 30.5 KRT9 KRT1
5 palmoplantar keratoderma, nonepidermolytic 30.5 RHBDF2 KRT6C KRT1
6 striate palmoplantar keratoderma 30.1 KRT1 DSP DSG1
7 ichthyosis hystrix, curth-macklin type 30.1 KRT5 KRT1
8 keratosis 30.0 KRT9 KRT1 DSP DSG1
9 epidermolysis bullosa 29.8 KRT5 KLHL24 DSP
10 epidermolysis bullosa simplex 29.6 KRT5 KRT1 KLHL24
11 palmoplantar keratosis 28.3 KRT9 KRT5 KRT1 JUP DSP DSG1
12 disease with diffuse palmoplantar keratoderma as a major feature 12.5
13 isolated diffuse palmoplantar keratoderma 12.5
14 autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature 12.5
15 diffuse palmoplantar keratoderma-acrocyanosis syndrome 12.5
16 autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature 12.5
17 autosomal recessive isolated diffuse palmoplantar keratoderma 12.5
18 autosomal dominant isolated diffuse palmoplantar keratoderma 12.5
19 keratoderma, palmoplantar, with deafness 12.2
20 palmoplantar keratoderma, nonepidermolytic, focal or diffuse 12.2
21 erythrokeratodermia variabilis et progressiva 1 12.0
22 unna-thost palmoplantar keratoderma 11.7
23 pityriasis rubra pilaris 11.6
24 skin fragility-woolly hair syndrome 11.6
25 palmoplantar keratoderma i, striate, focal, or diffuse 11.5
26 corneodermatoosseous syndrome 11.4
27 vohwinkel syndrome 11.4
28 tylosis with esophageal cancer 11.4
29 mal de meleda 11.4
30 epidermolysis bullosa simplex, generalized, with scarring and hair loss 11.4
31 knuckle pads, leuconychia and sensorineural deafness 11.4
32 pulmonary alveolar microlithiasis 10.4
33 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.3 DSP DSG1
34 branchiootic syndrome 1 10.3
35 erythrokeratoderma ''en cocardes'' 10.3
36 grover's disease 10.2 JUP DSP
37 epidermolysis bullosa, lethal acantholytic 10.2 JUP DSP
38 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.2 JUP DSP
39 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.2 JUP DSP
40 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.2 JUP DSP
41 palmoplantar keratoderma and woolly hair 10.2 JUP DSP
42 bullous skin disease 10.2 DSP DSG1
43 arrhythmogenic right ventricular dysplasia, familial, 1 10.2 JUP DSP
44 autoimmune disease of skin and connective tissue 10.1 DSP DSG1
45 arrhythmogenic right ventricular dysplasia, familial, 9 10.1 JUP DSP
46 ectodermal dysplasia/skin fragility syndrome 10.1 JUP DSP
47 arrhythmogenic right ventricular dysplasia, familial, 8 10.1 JUP DSP
48 autoimmune disease 10.1
49 clouston syndrome 10.1
50 epidermoid cysts 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

MGI Mouse Phenotypes related to Diffuse Palmoplantar Keratoderma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.17 DSG1 DSP JUP KRT1 KRT5 RARG

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:

41
Skin, Heart, Lung, Thyroid, T Cells

Publications for Diffuse Palmoplantar Keratoderma

Articles related to Diffuse Palmoplantar Keratoderma:

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

Variations for Diffuse Palmoplantar Keratoderma

ClinVar genetic disease variations for Diffuse Palmoplantar Keratoderma:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DSG1 NM_001942.4(DSG1): c.1176T> G (p.Tyr392Ter) single nucleotide variant Likely pathogenic 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
12.97 RARG KRT9 KRT6C KRT5 KRT1 JUP
2
Show member pathways
11.62 KRT9 KRT6C KRT5 KRT1 JUP DSP
3
Show member pathways
11.29 KRT6C KRT5 KRT1 DSP
4 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 9.91 KRT9 KRT6C KRT5 KRT1 JUP DSP
2 cell-cell junction GO:0005911 9.58 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 9.78 KRT1 JUP DSP DSG1
2 cell-cell adhesion GO:0098609 9.61 JUP DSP DSG1
3 epidermis development GO:0008544 9.58 KRT9 KRT5 DSP
4 peptide cross-linking GO:0018149 9.52 KRT1 DSP
5 adherens junction organization GO:0034332 9.51 JUP DSP
6 keratinization GO:0031424 9.5 KRT9 KRT6C KRT5 KRT1 JUP DSP
7 regulation of heart rate by cardiac conduction GO:0086091 9.49 JUP DSP
8 intermediate filament cytoskeleton organization GO:0045104 9.46 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 constituent of cytoskeleton GO:0005200 9.33 KRT9 KRT5 DSP
2 structural molecule activity GO:0005198 8.96 JUP DSP
3 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 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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