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 58 38
Diffuse Palmoplantar Keratoderma, Bothnian Type 60 74
Non-Epidermolytic Palmoplantar Keratoderma 60 38
Keratoderma, Palmoplantar, Bothnian Type 76 41
Ppkb 58 76
Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type 60
Palmoplantar Keratoderma, Nonepidermolytic 74
Keratoderma, Palmoplantar, Epidermolytic 45
Neppk 60

Characteristics:

Orphanet epidemiological data:

60
non-epidermolytic palmoplantar keratoderma
Inheritance: Autosomal dominant;

OMIM:

58
Inheritance:
autosomal dominant (12q11-q13)


HPO:

33
palmoplantar keratoderma, bothnian type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 600231
MeSH 45 D053546
ICD10 via Orphanet 35 Q82.8
UMLS via Orphanet 75 C1833030 C1838359
Orphanet 60 ORPHA2337
MedGen 43 C1838359

Summaries for Palmoplantar Keratoderma, Bothnian Type

OMIM : 58 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 keratoderma, epidermolytic. 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, and related phenotypes are diffuse palmoplantar keratoderma and abnormal blistering of the skin

UniProtKB/Swiss-Prot : 76 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

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:

60 33 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diffuse palmoplantar keratoderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0007435
2 abnormal blistering of the skin 60 33 frequent (33%) Frequent (79-30%) HP:0008066
3 pruritus 60 33 frequent (33%) Frequent (79-30%) HP:0000989
4 skin ulcer 60 33 frequent (33%) Frequent (79-30%) HP:0200042
5 erythema 60 33 frequent (33%) Frequent (79-30%) HP:0010783
6 papule 60 33 frequent (33%) Frequent (79-30%) HP:0200034

Symptoms via clinical synopsis from OMIM:

58
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:

42
Skin

Publications for Palmoplantar Keratoderma, Bothnian Type

Articles related to Palmoplantar Keratoderma, Bothnian Type:

# Title Authors Year
1
The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report. ( 27255181 )
2016
2
A spontaneous KRT16 mutation in a dog breed: a model for human focal non-epidermolytic palmoplantar keratoderma (FNEPPK). ( 25521457 )
2015
3
Diffuse non-epidermolytic palmoplantar keratoderma. ( 24222295 )
2013
4
Fine genetic mapping of diffuse non-epidermolytic palmoplantar keratoderma to chromosome 12q11-q13: exclusion of the mapped type II keratins. ( 10536965 )
1999
5
Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC). ( 8776604 )
1996
6
Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity. ( 7544664 )
1995
7
Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families. ( 8595410 )
1995

Variations for Palmoplantar Keratoderma, Bothnian Type

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

76
# 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

ClinVar genetic disease variations for Palmoplantar Keratoderma, Bothnian Type:

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

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 KRT16 KRT17 KRT9
2
Show member pathways
11.25 KRT16 KRT17 KRT9
3
Show member pathways
10.99 KRT16 KRT17

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 AQP5 KRT16 KRT17 KRT9
2 intermediate filament GO:0005882 8.8 KRT16 KRT17 KRT9

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 KRT16 KRT17 KRT9
2 cytoskeleton organization GO:0007010 9.32 KRT16 KRT17
3 intermediate filament organization GO:0045109 9.26 KRT17 KRT9
4 cornification GO:0070268 9.13 KRT16 KRT17 KRT9
5 epidermis development GO:0008544 8.8 KRT16 KRT17 KRT9

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 KRT16 KRT17
2 structural constituent of cytoskeleton GO:0005200 8.8 KRT16 KRT17 KRT9

Sources for Palmoplantar Keratoderma, Bothnian Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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