MCID: STR096
MIFTS: 29

Striate Palmoplantar Keratoderma

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Striate Palmoplantar Keratoderma

MalaCards integrated aliases for Striate Palmoplantar Keratoderma:

Name: Striate Palmoplantar Keratoderma 58 36
Keratosis Palmoplantaris Varians of Wachters 58
Keratosis Palmoplantaris Striata Et Areata 58
Keratosis Palmoplantaris Striata 58

Characteristics:

Orphanet epidemiological data:

58
striate palmoplantar keratoderma
Inheritance: Autosomal dominant;

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

KEGG 36 H00717
ICD10 via Orphanet 33 Q82.8
Orphanet 58 ORPHA50942
SNOMED-CT via HPO 68 17790008 706885006

Summaries for Striate Palmoplantar Keratoderma

KEGG : 36 Striate palmoplantar keratoderma (SPPK) is an autosomal dominant genodermatosis characterized by linear hyperkeratosis of volar aspects of the fingers and on the palm as well as by focal hyperkeratosis on the soles. SPPK is a heterogenous group of disorders caused by mutations in either desmoglein 1 (DSG1), desmoplakin (DSP), or keratin 1 (KRT1).

MalaCards based summary : Striate Palmoplantar Keratoderma, also known as keratosis palmoplantaris varians of wachters, is related to palmoplantar keratoderma and woolly hair and cardiomyopathy, dilated, with woolly hair and keratoderma. An important gene associated with Striate Palmoplantar Keratoderma is DSG1 (Desmoglein 1), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include skin, and related phenotypes are palmoplantar keratoderma and abnormality of the nail

Related Diseases for Striate Palmoplantar Keratoderma

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

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma and woolly hair 33.1 KANK2 DSP
2 cardiomyopathy, dilated, with woolly hair and keratoderma 30.6 DSP DSG1
3 familial woolly hair syndrome 30.4 KANK2 DSP DSG1
4 palmoplantar keratoderma, nonepidermolytic 30.3 KRT1 DSP DSG1
5 autosomal dominant epidermolytic ichthyosis 30.3 KRT10 KRT1
6 palmoplantar keratosis 29.5 SERPINB7 KRT10 KRT1 DSP DSG1 CTSC
7 keratosis 29.3 SERPINB7 KRT10 KRT1 DSP CTSC
8 epidermolytic hyperkeratosis 29.1 KRT14 KRT10 KRT1 DSP
9 skin disease 28.9 KRT14 KRT10 KRT1 DSP DSG1
10 palmoplantar keratoderma i, striate, focal, or diffuse 12.5
11 keratosis palmoplantaris striata iii 12.2
12 keratosis palmoplantaris striata ii 12.1
13 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 11.9
14 erythrokeratoderma ''en cocardes'' 10.4
15 bullous skin disease 10.3 DSP DSG1
16 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.2 DSP DSG1
17 acroosteolysis 10.2
18 atrial standstill 1 10.2
19 papillon-lefevre syndrome 10.2
20 haim-munk syndrome 10.2
21 otopalatodigital syndrome, type i 10.2
22 arrhythmogenic right ventricular dysplasia, familial, 8 10.2
23 chromosome 16p13.3 deletion syndrome, proximal 10.2
24 palmoplantar keratoderma, nonepidermolytic, focal 1 10.2
25 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 10.2
26 skin carcinoma 10.2
27 pustulosis of palm and sole 10.2
28 hypotrichosis 10.2
29 periodontitis 10.2
30 psoriasis 10.2
31 subcorneal pustular dermatosis 10.2 DSP DSG1
32 paraneoplastic pemphigus 10.2 DSP DSG1
33 naxos disease 10.2 DSP DSG1
34 benign chronic pemphigus 10.2 DSP DSG1
35 darier-white disease 10.1 DSP DSG1
36 pemphigus vulgaris, familial 10.1 DSP DSG1
37 autoimmune disease of skin and connective tissue 10.1 DSP DSG1
38 keratinopathic ichthyosis 10.0 KRT10 KRT1
39 acanthoma 10.0 KRT10 KRT1
40 erythroderma, ichthyosiform, congenital reticular 10.0 KRT10 KRT1
41 ichthyosis bullosa of siemens 10.0 KRT10 KRT1
42 ichthyosis, cyclic, with epidermolytic hyperkeratosis 10.0 KRT10 KRT1
43 cellulitis 10.0 DSP DSG1
44 epidermolytic acanthoma 10.0 KRT10 KRT1
45 diffuse palmoplantar keratoderma 10.0 KRT1 DSP DSG1
46 steatocystoma multiplex 10.0 KRT10 KRT1
47 castleman disease 9.9 DSP DSG1
48 nevus, epidermal 9.8 KRT10 KRT1
49 lichen planus 9.8 KRT10 KRT1 DSG1
50 eccrine papillary adenoma 9.7 KRT14 KRT10

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



Diseases related to Striate Palmoplantar Keratoderma

Symptoms & Phenotypes for Striate Palmoplantar Keratoderma

Human phenotypes related to Striate Palmoplantar Keratoderma:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
2 abnormality of the nail 58 31 frequent (33%) Frequent (79-30%) HP:0001597
3 abnormal hair morphology 31 frequent (33%) HP:0001595
4 abnormality of the hair 58 Frequent (79-30%)

Drugs & Therapeutics for Striate Palmoplantar Keratoderma

Search Clinical Trials , NIH Clinical Center for Striate Palmoplantar Keratoderma

Genetic Tests for Striate Palmoplantar Keratoderma

Anatomical Context for Striate Palmoplantar Keratoderma

MalaCards organs/tissues related to Striate Palmoplantar Keratoderma:

40
Skin

Publications for Striate Palmoplantar Keratoderma

Articles related to Striate Palmoplantar Keratoderma:

(show all 44)
# Title Authors PMID Year
1
A DSG1 Frameshift Variant in a Rottweiler Dog with Footpad Hyperkeratosis. 61
32344723 2020
2
Novel mutation in the DSG1 gene causes autosomal-dominant striate palmoplantar keratoderma in a large Syrian family. 61
31192455 2019
3
Striate palmoplantar keratoderma resulting from a missense mutation in DSG1. 61
29315490 2018
4
Whole-exome sequencing analysis reveals co-segregation of a COL20A1 missense mutation in a Pakistani family with striate palmoplantar keratoderma. 61
29934816 2018
5
Modeling the Structure of Keratin 1 and 10 Terminal Domains and their Misassembly in Keratoderma. 61
28526297 2017
6
Striate Palmoplantar Keratoderma Showing Transgrediens in a Patient Harbouring Heterozygous Nonsense Mutations in Both DSG1 and SERPINB7. 61
27786350 2017
7
Striate palmoplantar keratoderma: Report of a novel DSG1 mutation and atypical clinical manifestations. 61
26493105 2015
8
Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome. 61
25824144 2015
9
Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin. 61
26464567 2015
10
Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies. 61
25041099 2015
11
Insights into desmosome biology from inherited human skin disease and cardiocutaneous syndromes. 61
24738885 2014
12
Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation. 61
23524970 2013
13
The DSPII splice variant is crucial for desmosome-mediated adhesion in HaCaT keratinocytes. 61
22454510 2012
14
Desmoglein as a target in skin disease and beyond. 61
22189787 2012
15
Striate palmoplantar keratoderma. 61
20883380 2010
16
Hereditary keratosis palmoplantaris varians of Wachters (keratosis palmoplantaris striata et areata). 61
20372773 2010
17
Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma. 61
19558595 2009
18
Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma. 61
19157795 2009
19
Novel mutations in DSG1 causing striate palmoplantar keratoderma. 61
19018793 2009
20
Striate palmoplantar keratoderma in a patient with Rubinstein-Taybi syndrome. 61
18637050 2009
21
Striate palmoplantar keratoderma (Brunauer-Fohs-Siemens syndrome). 61
18627762 2008
22
Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene. 61
17194569 2007
23
Concordance of striate palmoplantar keratoderma and brachyphalangia in monozygous twins. 61
17062065 2006
24
[Desmoglein, the target molecule in autoimmunity and infection]. 61
17075192 2006
25
Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin. 61
16628197 2006
26
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
27
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. 61
16175511 2005
28
Striate palmoplantar keratoderma arising from desmoplakin and desmoglein 1 mutations is associated with contrasting perturbations of desmosomes and the keratin filament network. 61
15149499 2004
29
Targetting of desmoglein 1 in inherited and acquired skin diseases. 61
12823304 2003
30
Striate palmoplantar keratoderma. 61
12546771 2002
31
New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin C. 61
12207605 2002
32
Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. 61
11982762 2002
33
Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. 61
11841538 2002
34
Desmosomes: structure and function in normal and diseased epidermis. 61
11476106 2001
35
Characterization of the desmosomal cadherin gene family: genomic organization of two desmoglein genes on human chromosome 18q12. 61
11260246 2001
36
Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma. 61
11313759 2001
37
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. 61
10594734 1999
38
Clustered cadherin genes: a sequence-ready contig for the desmosomal cadherin locus on human chromosome 18. 61
10644442 1999
39
Hereditary diseases of desmosomes. 61
10379701 1999
40
N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. 61
10332028 1999
41
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. 61
9887343 1999
42
Keratosis palmoplantaris varians of Wachters. 61
10188147 1999
43
Striate palmoplantar keratoderma: a clinical and ultrastructural study. 61
9466074 1998
44
[Electron microscopic study of striate keratosis palmoplantaris (Wachters type)]. 61
2411057 1985

Variations for Striate Palmoplantar Keratoderma

Expression for Striate Palmoplantar Keratoderma

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

Pathways for Striate Palmoplantar Keratoderma

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.87 KRT14 KRT10 KRT1 DSP DSG1
2
Show member pathways
11.48 KRT14 KRT10 KRT1 DSP DSG1
3
Show member pathways
11.37 KRT14 KRT1 DSP
4 11.11 KRT14 KRT10 DSG1

GO Terms for Striate Palmoplantar Keratoderma

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.72 SERPINB7 KRT10 KRT1 CTSC COL20A1
2 collagen-containing extracellular matrix GO:0062023 9.54 KRT1 CTSC COL20A1
3 ficolin-1-rich granule membrane GO:0101003 9.26 DSP DSG1
4 intermediate filament GO:0005882 9.26 KRT14 KRT10 KRT1 DSP
5 desmosome GO:0030057 9.16 DSP DSG1
6 cornified envelope GO:0001533 8.92 KRT10 KRT1 DSP DSG1

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

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.62 KRT1 DSP DSG1 CTSC
2 keratinocyte differentiation GO:0030216 9.37 KRT10 DSP
3 keratinization GO:0031424 9.35 KRT14 KRT10 KRT1 DSP DSG1
4 peptide cross-linking GO:0018149 9.33 KRT10 KRT1 DSP
5 protein heterotetramerization GO:0051290 9.26 KRT10 KRT1
6 cornification GO:0070268 9.02 KRT14 KRT10 KRT1 DSP DSG1

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

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.13 KRT14 KRT10 DSP
2 structural constituent of epidermis GO:0030280 8.62 KRT10 KRT1

Sources for Striate 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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