MCID: STR096
MIFTS: 32

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 59 37
Keratosis Palmoplantaris Varians of Wachters 59
Keratosis Palmoplantaris Striata Et Areata 59
Keratosis Palmoplantaris Striata 59

Characteristics:

Orphanet epidemiological data:

59
striate palmoplantar keratoderma
Inheritance: Autosomal dominant;

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Orphanet 59 ORPHA50942
ICD10 via Orphanet 34 Q82.8
KEGG 37 H00717
SNOMED-CT via HPO 69 706885006 17790008

Summaries for Striate Palmoplantar Keratoderma

MalaCards based summary : Striate Palmoplantar Keratoderma, also known as keratosis palmoplantaris varians of wachters, is related to palmoplantar keratoderma and woolly hair and palmoplantar keratosis. 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 abnormality of the nail and palmoplantar keratoderma

Related Diseases for Striate Palmoplantar Keratoderma

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

(show all 48)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma and woolly hair 32.8 DSP KANK2
2 palmoplantar keratosis 30.7 CTSC DSG1 DSP KRT1 SERPINB7
3 skin disease 29.9 DSG1 DSP KRT1 KRT10 KRT14
4 keratosis 29.8 CTSC DSG1 DSP KRT1 KRT10 SERPINB7
5 palmoplantar keratoderma i, striate, focal, or diffuse 12.2
6 keratosis palmoplantaris striata iii 11.7
7 keratosis palmoplantaris striata ii 11.6
8 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 11.4
9 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.2 DSG1 DSP
10 chromosome 16p13.3 deletion syndrome, proximal 10.2
11 melanoma 10.2
12 hypotrichosis 10.2
13 periodontitis 10.2
14 woolly hair syndrome 10.2
15 cardiomyopathy, dilated, with woolly hair and keratoderma 10.2 DSG1 DSP
16 autoimmune disease of skin and connective tissue 10.2 DSG1 DSP
17 bullous skin disease 10.1 DSG1 DSP
18 cellulitis 10.1 DSG1 DSP
19 paraneoplastic pemphigus 10.1 DSG1 DSP
20 pemphigus 10.1 DSG1 DSP
21 epidermolytic acanthoma 10.1 KRT1 KRT10
22 acanthoma 10.1 KRT1 KRT10
23 erythroderma, ichthyosiform, congenital reticular 10.1 KRT1 KRT10
24 ichthyosis, cyclic, with epidermolytic hyperkeratosis 10.1 KRT1 KRT10
25 epidermolytic hyperkeratosis 10.1 KRT1 KRT10
26 ichthyosis bullosa of siemens 10.1 KRT1 KRT10
27 filamentary keratitis 10.1 KRT1 KRT10
28 autosomal dominant epidermolytic ichthyosis 10.1 KRT1 KRT10
29 keratoacanthoma 10.1 DSG1 KRT10
30 basal cell carcinoma, infundibulocystic 10.0 KRT10 KRT14
31 pemphigus vulgaris 10.0 DSG1 DSP
32 large cell acanthoma 10.0 KRT10 KRT14
33 breast squamous cell carcinoma 10.0 KRT10 KRT14
34 epidermolysis bullosa simplex with mottled pigmentation 10.0 KRT10 KRT14
35 epidermolysis bullosa simplex, dowling-meara type 10.0 KRT10 KRT14
36 hidradenitis suppurativa 10.0 KRT10 KRT14
37 hidradenitis 10.0 KRT10 KRT14
38 intraneural perineurioma 10.0 KRT10 KRT14
39 pinguecula 10.0 KRT10 KRT14
40 mal de meleda 10.0 KRT1 SERPINB7
41 skin benign neoplasm 9.9 KRT1 KRT14
42 bullous pemphigoid 9.9 DSG1 DSP
43 primary cutaneous amyloidosis 9.9 KRT10 KRT14
44 white sponge nevus 1 9.9 KRT1 KRT10 KRT14
45 palmoplantar keratoderma, epidermolytic 9.9 KRT1 KRT10 KRT14
46 epidermodysplasia verruciformis 9.9 KRT10 KRT14
47 epidermolysis bullosa simplex 9.9 KRT1 KRT10 KRT14
48 papilloma 9.9 KRT1 KRT10 KRT14

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:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the nail 59 32 frequent (33%) Frequent (79-30%) HP:0001597
2 palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000982
3 abnormality of the hair 59 32 frequent (33%) Frequent (79-30%) HP:0001595

MGI Mouse Phenotypes related to Striate Palmoplantar Keratoderma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.02 CTSC DSG1 DSP KRT1 KRT14

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:

41
Skin

Publications for Striate Palmoplantar Keratoderma

Articles related to Striate Palmoplantar Keratoderma:

(show all 21)
# Title Authors Year
1
Striate palmoplantar keratoderma resulting from a missense mutation in DSG1. ( 29315490 )
2018
2
Whole-exome sequencing analysis reveals co-segregation of a COL20A1 missense mutation in a Pakistani family with striate palmoplantar keratoderma. ( 29934816 )
2018
3
Striate Palmoplantar Keratoderma Showing Transgrediens in a Patient Harbouring Heterozygous Nonsense Mutations in Both DSG1 and SERPINB7. ( 27786350 )
2017
4
Striate palmoplantar keratoderma: Report of a novel DSG1 mutation and atypical clinical manifestations. ( 26493105 )
2015
5
Striate palmoplantar keratoderma. ( 20883380 )
2010
6
Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma. ( 19157795 )
2009
7
Novel mutations in DSG1 causing striate palmoplantar keratoderma. ( 19018793 )
2009
8
Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma. ( 19558595 )
2009
9
Striate palmoplantar keratoderma in a patient with Rubinstein-Taybi syndrome. ( 18637050 )
2009
10
Striate palmoplantar keratoderma (Brunauer-Fohs-Siemens syndrome). ( 18627762 )
2008
11
Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene. ( 17194569 )
2007
12
Concordance of striate palmoplantar keratoderma and brachyphalangia in monozygous twins. ( 17062065 )
2006
13
Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin. ( 16628197 )
2006
14
Striate palmoplantar keratoderma arising from desmoplakin and desmoglein 1 mutations is associated with contrasting perturbations of desmosomes and the keratin filament network. ( 15149499 )
2004
15
Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. ( 11982762 )
2002
16
New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin C. ( 12207605 )
2002
17
Striate palmoplantar keratoderma. ( 12546771 )
2002
18
Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma. ( 11313759 )
2001
19
N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. ( 10332028 )
1999
20
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. ( 10594734 )
1999
21
Striate palmoplantar keratoderma: a clinical and ultrastructural study. ( 9466074 )
1998

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
12.77 DSG1 DSP KRT1 KRT10 KRT14
2
Show member pathways
11.48 DSG1 DSP KRT1 KRT10 KRT14
3
Show member pathways
11.17 DSP KRT1 KRT14
4 11 DSG1 KRT10

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 exosome GO:0070062 9.77 CTSC DSP KRT1 KRT10 KRT14
2 extracellular space GO:0005615 9.65 COL20A1 CTSC KRT1 KRT10 SERPINB7
3 ficolin-1-rich granule membrane GO:0101003 9.32 DSG1 DSP
4 intermediate filament GO:0005882 9.26 DSP KRT1 KRT10 KRT14
5 desmosome GO:0030057 9.16 DSG1 DSP
6 cornified envelope GO:0001533 8.92 DSG1 DSP KRT1 KRT10

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 CTSC DSG1 DSP KRT1
2 keratinocyte differentiation GO:0030216 9.4 DSP KRT10
3 protein heterotetramerization GO:0051290 9.37 KRT1 KRT10
4 keratinization GO:0031424 9.35 DSG1 DSP KRT1 KRT10 KRT14
5 peptide cross-linking GO:0018149 9.33 DSP KRT1 KRT10
6 complement activation, lectin pathway GO:0001867 9.26 COL20A1 KRT1
7 cornification GO:0070268 9.02 DSG1 DSP KRT1 KRT10 KRT14

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 DSP KRT1 KRT10
2 structural constituent of epidermis GO:0030280 8.62 KRT1 KRT10

Sources for Striate Palmoplantar Keratoderma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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