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 56 52 36
Diffuse Palmoplantar Keratoderma, Bothnian Type 52 58 29 6 71
Ppkb 56 52 73
Non-Epidermolytic Palmoplantar Keratoderma 58 36
Keratoderma, Palmoplantar, Bothnian Type 73 39
Neppk 58 54
Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type 58
Palmoplantar Keratoderma, Nonepidermolytic 71
Keratoderma, Palmoplantar, Epidermolytic 43

Characteristics:

Orphanet epidemiological data:

58
non-epidermolytic palmoplantar keratoderma
Inheritance: Autosomal dominant;

OMIM:

56
Inheritance:
autosomal dominant (12q11-q13)


HPO:

31
palmoplantar keratoderma, bothnian type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM 56 600231
MeSH 43 D053546
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 72 C1833030 C1838359
Orphanet 58 ORPHA2337
MedGen 41 C1838359
UMLS 71 C1833030 C1838359

Summaries for Palmoplantar Keratoderma, Bothnian Type

OMIM : 56 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 palmoplantar keratoderma, nonepidermolytic and focal palmoplantar keratoderma. An important gene associated with Palmoplantar Keratoderma, Bothnian Type is AQP5 (Aquaporin 5), and among its related pathways/superpathways are Relaxin signaling pathway and Keratinization. Affiliated tissues include skin, and related phenotypes are diffuse palmoplantar keratoderma and abnormal blistering of the skin

KEGG : 36 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 : 73 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 34)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma, nonepidermolytic 32.1 KRT9 KRT16 AQP5
2 focal palmoplantar keratoderma 30.1 KRT17 KRT16
3 keratosis 29.6 KRT9 KRT17
4 skin disease 29.5 KRT9 KRT17 KRT16
5 epidermolysis bullosa 29.5 KRT17 KRT16
6 ectodermal dysplasia 29.4 KRT17 KRT16
7 epidermolysis bullosa simplex 29.4 KRT17 KRT16
8 palmoplantar keratosis 29.3 KRT9 KRT17 KRT16
9 pachyonychia congenita 1 29.1 KRT9 KRT17 KRT16
10 palmoplantar keratoderma, epidermolytic 29.1 KRT9 KRT17 KRT16
11 isolated focal non-epidermolytic palmoplantar keratoderma 12.7
12 naxos disease 11.8
13 palmoplantar keratoderma, nonepidermolytic, focal or diffuse 11.7
14 unna-thost palmoplantar keratoderma 11.2
15 tylosis with esophageal cancer 10.4
16 palmoplantar keratoderma, punctate type ia 10.4
17 bacterial infectious disease 10.4
18 diphtheria 10.4
19 palmoplantar keratoderma, nonepidermolytic, focal 1 10.3
20 esophageal cancer 10.1
21 ichthyosis 10.1
22 barrett's adenocarcinoma 10.1
23 psoriasis 10.1
24 diabetes insipidus, nephrogenic, autosomal 9.9 LOC101927318 AQP5
25 median rhomboid glossitis 9.7 KRT17 KRT16
26 glossitis 9.7 KRT17 KRT16
27 pachyonychia congenita 2 9.7 KRT17 KRT16
28 steatocystoma multiplex 9.7 KRT17 KRT16
29 tinea corporis 9.6 KRT17 KRT16
30 keratoacanthoma 9.6 KRT17 KRT16
31 primary cutaneous amyloidosis 9.6 KRT17 KRT16
32 diffuse palmoplantar keratoderma 9.5 LOC101927318 KRT9 AQP5
33 monilethrix 9.4 KRT17 KRT16
34 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:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diffuse palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0007435
2 abnormal blistering of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0008066
3 pruritus 58 31 frequent (33%) Frequent (79-30%) HP:0000989
4 erythema 58 31 frequent (33%) Frequent (79-30%) HP:0010783
5 papule 58 31 frequent (33%) Frequent (79-30%) HP:0200034
6 skin ulcer 58 31 frequent (33%) Frequent (79-30%) HP:0200042

Symptoms via clinical synopsis from OMIM:

56
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

Genetic tests related to Palmoplantar Keratoderma, Bothnian Type:

# Genetic test Affiliating Genes
1 Diffuse Palmoplantar Keratoderma, Bothnian Type 29 AQP5

Anatomical Context for Palmoplantar Keratoderma, Bothnian Type

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

40
Skin

Publications for Palmoplantar Keratoderma, Bothnian Type

Articles related to Palmoplantar Keratoderma, Bothnian Type:

# Title Authors PMID Year
1
Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. 56 6
23830519 2013
2
The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13. 56 6
7531539 1994
3
High-resolution transcript map of the region spanning D12S1629 and D12S312 at chromosome 12q13: triple A syndrome-linked region. 61
11042153 2000
4
Mutations in the 1A rod domain segment of the keratin 9 gene in epidermolytic palmoplantar keratoderma. 54
9833037 1998
5
Human keratin diseases: hereditary fragility of specific epithelial tissues. 54
9028791 1996
6
Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity. 54
7544664 1995

Variations for Palmoplantar Keratoderma, Bothnian Type

ClinVar genetic disease variations for Palmoplantar Keratoderma, Bothnian Type:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AQP5 NM_001651.4(AQP5):c.113C>A (p.Ala38Glu)SNV Pathogenic 65478 rs398123054 12:50355913-50355913 12:49962130-49962130
2 AQP5 NM_001651.4(AQP5):c.562C>T (p.Arg188Cys)SNV Pathogenic 65479 rs368292687 12:50357908-50357908 12:49964125-49964125
3 AQP5 NM_001651.4(AQP5):c.134T>G (p.Ile45Ser)SNV Pathogenic 65480 rs398123055 12:50355934-50355934 12:49962151-49962151
4 AQP5 NM_001651.4(AQP5):c.529A>T (p.Ile177Phe)SNV Pathogenic 65481 rs398123056 12:50357875-50357875 12:49964092-49964092
5 AQP5 NM_001651.4(AQP5):c.367A>G (p.Asn123Asp)SNV Pathogenic 65482 rs398123057 12:50357278-50357278 12:49963495-49963495

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

73
# 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
11.93 KRT9 KRT17 KRT16
2
Show member pathways
11.59 KRT9 KRT17 KRT16
3
Show member pathways
11.29 KRT17 KRT16
4 10.78 KRT9 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 epidermis development GO:0008544 9.26 KRT9 KRT17
2 intermediate filament organization GO:0045109 9.16 KRT9 KRT17
3 keratinization GO:0031424 9.13 KRT9 KRT17 KRT16
4 cornification GO:0070268 8.8 KRT9 KRT17 KRT16

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 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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