PPKB
MCID: PLM135
MIFTS: 35

Palmoplantar Keratoderma, Bothnian Type (PPKB)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Palmoplantar Keratoderma, Bothnian Type

MalaCards integrated aliases for Palmoplantar Keratoderma, Bothnian Type:

Name: Palmoplantar Keratoderma, Bothnian Type 57 37
Diffuse Palmoplantar Keratoderma, Bothnian Type 59 72
Non-Epidermolytic Palmoplantar Keratoderma 59 37
Keratoderma, Palmoplantar, Bothnian Type 74 40
Neppk 59 55
Ppkb 57 74
Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type 59
Palmoplantar Keratoderma, Nonepidermolytic 72
Keratoderma, Palmoplantar, Epidermolytic 44

Characteristics:

Orphanet epidemiological data:

59
non-epidermolytic palmoplantar keratoderma
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant (12q11-q13)


HPO:

32
palmoplantar keratoderma, bothnian type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 600231
MeSH 44 D053546
ICD10 via Orphanet 34 Q82.8
UMLS via Orphanet 73 C1833030 C1838359
Orphanet 59 ORPHA2337
MedGen 42 C1838359
UMLS 72 C1833030 C1838359

Summaries for Palmoplantar Keratoderma, Bothnian Type

OMIM : 57 Hereditary palmoplantar keratoderma is characterized by hyperkeratosis of the skin of palms and soles. Lind et al. (1994) described an autosomal dominant form of diffuse nonepidermolytic PPK, designated PPK type Bothnia, which has a high prevalence of 0.3 to 0.55% in the 2 northernmost provinces of Sweden, situated to the west and the northwest of the Gulf of Bothnia. The Bothnian form is frequently complicated by fungal infections and lacks the histopathologic features distinctive of epidermolytic PPK (144200). For discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK (144200). (600231)

MalaCards based summary : Palmoplantar Keratoderma, Bothnian Type, also known as diffuse palmoplantar keratoderma, bothnian type, is related to diffuse palmoplantar keratoderma, bothnian type and palmoplantar keratosis. An important gene associated with Palmoplantar Keratoderma, Bothnian Type is AQP5 (Aquaporin 5), and among its related pathways/superpathways are Circadian entrainment and Keratinization. Affiliated tissues include skin, colon and adipocyte, and related phenotypes are diffuse palmoplantar keratoderma and abnormal blistering of the skin

KEGG : 37
Nonepidermolytic palmoplantar keratoderma (NEPPK) is an autosomal dominant skin disorder that manifests as keratosis of the palmar and plantar surfaces surrounded by erythema. NEPPK is divided into the focal form (FNEPPK), the focal or diffuse form (PPKNEFD), the diffuse Bothnian form (PPKB), Nagashima form (PPKN), and so on.

UniProtKB/Swiss-Prot : 74 Keratoderma, palmoplantar, Bothnian type: A dermatological disorder characterized by diffuse non-epidermolytic hyperkeratosis of the skin of palms and soles. PPKB is frequently complicated by fungal infections.

Related Diseases for Palmoplantar Keratoderma, Bothnian Type

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

(show all 33)
# Related Disease Score Top Affiliating Genes
1 diffuse palmoplantar keratoderma, bothnian type 34.2 LOC101927318 AQP5
2 palmoplantar keratosis 29.9 KRT9 KRT16
3 palmoplantar keratoderma, epidermolytic 29.9 KRT9 KRT16
4 skin disease 29.3 KRT9 KRT17 KRT16
5 psoriasis 29.0 KRT17 KRT16
6 pachyonychia congenita 1 28.9 KRT9 KRT17 KRT16
7 isolated focal non-epidermolytic palmoplantar keratoderma 12.7
8 palmoplantar keratoderma, nonepidermolytic 11.9
9 naxos disease 11.8
10 palmoplantar keratoderma, nonepidermolytic, focal or diffuse 11.7
11 unna-thost palmoplantar keratoderma 11.2
12 tylosis with esophageal cancer 10.4
13 palmoplantar keratoderma, punctate type ia 10.4
14 bacterial infectious disease 10.4
15 diphtheria 10.4
16 ectodermal dysplasia 10.4
17 focal palmoplantar keratoderma 10.4
18 palmoplantar keratoderma, nonepidermolytic, focal 1 10.3
19 esophageal cancer 10.1
20 keratosis 10.1
21 ichthyosis 10.1
22 epidermolysis bullosa 10.1
23 epidermolysis bullosa simplex 10.1
24 barrett's adenocarcinoma 10.1
25 tinea corporis 9.7 KRT17 KRT16
26 median rhomboid glossitis 9.7 KRT17 KRT16
27 bowen's disease 9.7 KRT17 KRT16
28 steatocystoma multiplex 9.7 KRT17 KRT16
29 eccrine acrospiroma 9.6 KRT9 KRT17
30 keratoacanthoma 9.6 KRT17 KRT16
31 primary cutaneous amyloidosis 9.5 KRT17 KRT16
32 monilethrix 9.4 KRT17 KRT16
33 epidermolytic hyperkeratosis 9.2 KRT9 KRT17 KRT16

Graphical network of the top 20 diseases related to Palmoplantar Keratoderma, Bothnian Type:



Diseases related to Palmoplantar Keratoderma, Bothnian Type

Symptoms & Phenotypes for Palmoplantar Keratoderma, Bothnian Type

Human phenotypes related to Palmoplantar Keratoderma, Bothnian Type:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diffuse palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0007435
2 abnormal blistering of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0008066
3 pruritus 59 32 frequent (33%) Frequent (79-30%) HP:0000989
4 erythema 59 32 frequent (33%) Frequent (79-30%) HP:0010783
5 papule 59 32 frequent (33%) Frequent (79-30%) HP:0200034
6 skin ulcer 59 32 frequent (33%) Frequent (79-30%) HP:0200042

Symptoms via clinical synopsis from OMIM:

57
Skin:
diffuse palmoplantar keratoderma

Misc:
frequently associated with fungal infections

Clinical features from OMIM:

600231

Drugs & Therapeutics for Palmoplantar Keratoderma, Bothnian Type

Search Clinical Trials , NIH Clinical Center for Palmoplantar Keratoderma, Bothnian Type

Cochrane evidence based reviews: keratoderma, palmoplantar, epidermolytic

Genetic Tests for Palmoplantar Keratoderma, Bothnian Type

Anatomical Context for Palmoplantar Keratoderma, Bothnian Type

MalaCards organs/tissues related to Palmoplantar Keratoderma, Bothnian Type:

41
Skin, Colon, Adipocyte

Publications for Palmoplantar Keratoderma, Bothnian Type

Articles related to Palmoplantar Keratoderma, Bothnian Type:

(show all 13)
# Title Authors PMID Year
1
Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. 8 71
23830519 2013
2
The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13. 8 71
7531539 1994
3
PKB-mediated PHF20 phosphorylation on Ser291 is required for p53 function in DNA damage. 38
22975685 2013
4
Dietary supplementation of lutein reduces colon carcinogenesis in DMH-treated rats by modulating K-ras, PKB, and β-catenin proteins. 38
21128180 2011
5
Inhibition of glycolysis enhances cisplatin-induced apoptosis in ovarian cancer cells. 38
20138251 2010
6
Insulin-induced formation of macromolecular complexes involved in activation of cyclic nucleotide phosphodiesterase 3B (PDE3B) and its interaction with PKB. 38
17324123 2007
7
Insulin resistance induced by high glucose and high insulin precedes insulin receptor substrate 1 protein depletion in human adipocytes. 38
17224332 2007
8
Resveratrol modulates the phosphoinositide 3-kinase pathway through an estrogen receptor alpha-dependent mechanism: relevance in cell proliferation. 38
14750165 2004
9
Effects of the epidermal growth factor receptor inhibitor OSI-774, Tarceva, on downstream signaling pathways and apoptosis in human pancreatic adenocarcinoma. 38
12492110 2002
10
High-resolution transcript map of the region spanning D12S1629 and D12S312 at chromosome 12q13: triple A syndrome-linked region. 38
11042153 2000
11
Mutations in the 1A rod domain segment of the keratin 9 gene in epidermolytic palmoplantar keratoderma. 9
9833037 1998
12
Human keratin diseases: hereditary fragility of specific epithelial tissues. 9
9028791 1996
13
Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity. 9
7544664 1995

Variations for Palmoplantar Keratoderma, Bothnian Type

ClinVar genetic disease variations for Palmoplantar Keratoderma, Bothnian Type:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 AQP5 NM_001651.4(AQP5): c.113C> A (p.Ala38Glu) single nucleotide variant Pathogenic rs398123054 12:50355913-50355913 12:49962130-49962130
2 AQP5 NM_001651.4(AQP5): c.562C> T (p.Arg188Cys) single nucleotide variant Pathogenic rs368292687 12:50357908-50357908 12:49964125-49964125
3 AQP5 NM_001651.4(AQP5): c.134T> G (p.Ile45Ser) single nucleotide variant Pathogenic rs398123055 12:50355934-50355934 12:49962151-49962151
4 AQP5 NM_001651.4(AQP5): c.529A> T (p.Ile177Phe) single nucleotide variant Pathogenic rs398123056 12:50357875-50357875 12:49964092-49964092
5 AQP5 NM_001651.4(AQP5): c.367A> G (p.Asn123Asp) single nucleotide variant Pathogenic rs398123057 12:50357278-50357278 12:49963495-49963495

UniProtKB/Swiss-Prot genetic disease variations for Palmoplantar Keratoderma, Bothnian Type:

74
# Symbol AA change Variation ID SNP ID
1 AQP5 p.Ala38Glu VAR_070442 rs398123054
2 AQP5 p.Ile45Ser VAR_070443 rs398123055
3 AQP5 p.Asn123Asp VAR_070444 rs398123057
4 AQP5 p.Ile177Phe VAR_070445 rs398123056
5 AQP5 p.Arg188Cys VAR_070446 rs368292687

Expression for Palmoplantar Keratoderma, Bothnian Type

Search GEO for disease gene expression data for Palmoplantar Keratoderma, Bothnian Type.

Pathways for Palmoplantar Keratoderma, Bothnian Type

Pathways related to Palmoplantar Keratoderma, Bothnian Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.2 KRT9 KRT17 KRT16
2
Show member pathways
11.25 KRT9 KRT17 KRT16
3
Show member pathways
10.99 KRT17 KRT16

GO Terms for Palmoplantar Keratoderma, Bothnian Type

Cellular components related to Palmoplantar Keratoderma, Bothnian Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.26 KRT9 KRT17 KRT16 AQP5
2 intermediate filament GO:0005882 8.8 KRT9 KRT17 KRT16

Biological processes related to Palmoplantar Keratoderma, Bothnian Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.33 KRT9 KRT17 KRT16
2 intermediate filament organization GO:0045109 9.26 KRT9 KRT17
3 cornification GO:0070268 9.13 KRT9 KRT17 KRT16
4 cytoskeleton organization GO:0007010 9.02 KRT16
5 epidermis development GO:0008544 8.62 KRT9 KRT17

Molecular functions related to Palmoplantar Keratoderma, Bothnian Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 8.96 KRT17 KRT16
2 structural constituent of cytoskeleton GO:0005200 8.8 KRT9 KRT17 KRT16

Sources for Palmoplantar Keratoderma, Bothnian Type

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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