MCID: DFF023
MIFTS: 8

Diffuse Palmoplantar Keratoderma, Bothnian Type

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Diffuse Palmoplantar Keratoderma, Bothnian Type

MalaCards integrated aliases for Diffuse Palmoplantar Keratoderma, Bothnian Type:

Name: Diffuse Palmoplantar Keratoderma, Bothnian Type 53 29 6 73
Palmoplantar Keratoderma, Bothnian Type 53
Ppkb 53

Classifications:



External Ids:

UMLS 73 C1838359

Summaries for Diffuse Palmoplantar Keratoderma, Bothnian Type

MalaCards based summary : Diffuse Palmoplantar Keratoderma, Bothnian Type, also known as palmoplantar keratoderma, bothnian type, is related to palmoplantar keratoderma, bothnian type. An important gene associated with Diffuse Palmoplantar Keratoderma, Bothnian Type is AQP5 (Aquaporin 5).

Related Diseases for Diffuse Palmoplantar Keratoderma, Bothnian Type

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

# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma, bothnian type 30.8 AQP5 LOC101927318

Symptoms & Phenotypes for Diffuse Palmoplantar Keratoderma, Bothnian Type

Drugs & Therapeutics for Diffuse Palmoplantar Keratoderma, Bothnian Type

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

Genetic Tests for Diffuse Palmoplantar Keratoderma, Bothnian Type

Genetic tests related to Diffuse Palmoplantar Keratoderma, Bothnian Type:

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

Anatomical Context for Diffuse Palmoplantar Keratoderma, Bothnian Type

Publications for Diffuse Palmoplantar Keratoderma, Bothnian Type

Variations for Diffuse Palmoplantar Keratoderma, Bothnian Type

ClinVar genetic disease variations for Diffuse 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 Diffuse Palmoplantar Keratoderma, Bothnian Type

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

Pathways for Diffuse Palmoplantar Keratoderma, Bothnian Type

GO Terms for Diffuse Palmoplantar Keratoderma, Bothnian Type

Sources for Diffuse Palmoplantar Keratoderma, Bothnian Type

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10 dbSNP
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17 ExPASy
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69 SNOMED-CT via HPO
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71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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