MCID: PLM135
MIFTS: 28

Palmoplantar Keratoderma, Bothnian Type

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Palmoplantar Keratoderma, Bothnian Type

MalaCards integrated aliases for Palmoplantar Keratoderma, Bothnian Type:

Name: Palmoplantar Keratoderma, Bothnian Type 57
Diffuse Palmoplantar Keratoderma, Bothnian Type 59 73
Non-Epidermolytic Palmoplantar Keratoderma 59 37
Keratoderma, Palmoplantar, Bothnian Type 75 40
Ppkb 57 75
Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type 59
Palmoplantar Keratoderma, Nonepidermolytic 73
Keratoderma, Palmoplantar, Epidermolytic 44
Neppk 59

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
Orphanet 59 ORPHA2337
UMLS via Orphanet 74 C1833030 C1838359
ICD10 via Orphanet 34 Q82.8
MedGen 42 C1838359
MeSH 44 D053546
KEGG 37 H00723

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 isolated focal non-epidermolytic palmoplantar keratoderma. An important gene associated with Palmoplantar Keratoderma, Bothnian Type is AQP5 (Aquaporin 5). Affiliated tissues include skin, and related phenotypes are abnormal blistering of the skin and pruritus

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Skin:
diffuse palmoplantar keratoderma

Misc:
frequently associated with fungal infections


Clinical features from OMIM:

600231

Human phenotypes related to Palmoplantar Keratoderma, Bothnian Type:

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

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

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

Variations for Palmoplantar Keratoderma, Bothnian Type

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

75
# 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

GO Terms for Palmoplantar Keratoderma, Bothnian Type

Sources for Palmoplantar Keratoderma, Bothnian Type

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62 PubMed
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70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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