MCID: STR096
MIFTS: 32

Striate Palmoplantar Keratoderma

Categories: Skin diseases, Rare 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 palmoplantar keratoderma and abnormality of the hair

Related Diseases for Striate Palmoplantar Keratoderma

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma and woolly hair 33.0 DSP KANK2
2 palmoplantar keratosis 29.3 CTSC DSG1 DSP KRT1 SERPINB7
3 skin disease 27.8 DSG1 DSP KRT1 KRT10 KRT14
4 keratosis 27.5 CTSC DSG1 DSP KRT1 KRT10 SERPINB7
5 palmoplantar keratoderma i, striate, focal, or diffuse 12.0
6 keratosis palmoplantaris striata iii 11.5
7 keratosis palmoplantaris striata ii 11.5
8 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 11.2
9 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.5 DSG1 DSP
10 autoimmune disease of skin and connective tissue 10.5 DSG1 DSP
11 bullous skin disease 10.4 DSG1 DSP
12 paraneoplastic pemphigus 10.4 DSG1 DSP
13 pemphigus vulgaris 10.3 DSG1 DSP
14 pemphigus 10.2 DSG1 DSP
15 bullous pemphigoid 10.2 DSG1 DSP
16 epidermolytic acanthoma 10.1 KRT1 KRT10
17 erythroderma, ichthyosiform, congenital reticular 10.1 KRT1 KRT10
18 acanthoma 10.1 KRT1 KRT10
19 keratoacanthoma 10.1 DSG1 KRT10
20 ichthyosis, cyclic, with epidermolytic hyperkeratosis 10.1 KRT1 KRT10
21 filamentary keratitis 10.1 KRT1 KRT10
22 melanoma 10.1
23 hypotrichosis 10.1
24 periodontitis 10.1
25 woolly hair syndrome 10.1
26 chromosome 16p13.3 deletion syndrome, proximal 10.1
27 epidermolytic hyperkeratosis 9.9 KRT1 KRT10
28 skin benign neoplasm 9.7 KRT1 KRT14
29 basal cell carcinoma, infundibulocystic 9.7 KRT10 KRT14
30 large cell acanthoma 9.7 KRT10 KRT14
31 epidermolysis bullosa simplex with mottled pigmentation 9.6 KRT10 KRT14
32 breast squamous cell carcinoma 9.6 KRT10 KRT14
33 epidermolysis bullosa simplex, dowling-meara type 9.6 KRT10 KRT14
34 hidradenitis suppurativa 9.6 KRT10 KRT14
35 hidradenitis 9.6 KRT10 KRT14
36 intraneural perineurioma 9.6 KRT10 KRT14
37 pinguecula 9.6 KRT10 KRT14
38 congenital ichthyosiform erythroderma 9.5 KRT1 KRT10
39 alopecia 9.5 DSP KRT14
40 primary cutaneous amyloidosis 9.5 KRT10 KRT14
41 ichthyosis vulgaris 9.2 KRT1 KRT10 KRT14
42 white sponge nevus 1 9.2 KRT1 KRT10 KRT14
43 ichthyosis bullosa of siemens 9.2 KRT1 KRT10 KRT14
44 epidermolysis bullosa 9.2 DSP KRT14
45 epidermolysis bullosa simplex 9.2 KRT1 KRT10 KRT14
46 epidermodysplasia verruciformis 9.2 KRT1 KRT10 KRT14
47 papilloma 9.1 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 palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000982
2 abnormality of the hair 59 32 frequent (33%) Frequent (79-30%) HP:0001595
3 abnormality of the nail 59 32 frequent (33%) Frequent (79-30%) HP:0001597

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 23)
# 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
Acral malignant melanoma and striated palmoplantar keratoderma (Brunauer-Fohs-Siemens syndrome): a fortuitous association? ( 15606835 )
2004
16
Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. ( 11982762 )
2002
17
New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin C. ( 12207605 )
2002
18
Striate palmoplantar keratoderma. ( 12546771 )
2002
19
Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma. ( 11313759 )
2001
20
Striated palmoplantar keratoderma of Brunauer-Fohs-Siemens. ( 11737425 )
2001
21
N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. ( 10332028 )
1999
22
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. ( 10594734 )
1999
23
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 11.29 KRT1 KRT14
4
Show member pathways
11.17 DSP KRT1 KRT14
5 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 9.73 CTSC DSG1 DSP KRT1 KRT10 KRT14
2 keratin filament GO:0045095 9.37 KRT1 KRT14
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 9.56 CTSC DSG1 DSP KRT1
2 keratinization GO:0031424 9.35 DSG1 DSP KRT1 KRT10 KRT14
3 peptide cross-linking GO:0018149 9.33 DSP KRT1 KRT10
4 keratinocyte differentiation GO:0030216 9.32 DSP KRT10
5 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
Content
Loading form....