MCID: FCL029
MIFTS: 32

Focal Palmoplantar Keratoderma malady

Skin diseases category

Summaries for Focal Palmoplantar Keratoderma

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Genetics Home Reference:23 Focal palmoplantar keratoderma is a skin condition characterized by the development of painful blisters and calluses on the soles of the feet and, less commonly, on the palms of the hands. The skin abnormalities usually begin in childhood, and they primarily affect areas that experience trauma or friction. Severe blisters and calluses on the feet can cause pain and difficulty walking.

MalaCards based summary: Focal Palmoplantar Keratoderma, also known as hyperkeratosis of the palms and soles and esophageal papillomas, is related to keratoderma and pachyonychia congenita. An important gene associated with Focal Palmoplantar Keratoderma is KRT6C (keratin 6C), and among its related pathways are Cytoskeletal Signaling and Cytoskeleton remodeling Keratin filaments. The compounds asparagine and sodium dodecylsulfate have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are digestive/alimentary and craniofacial.

Aliases & Classifications for Focal Palmoplantar Keratoderma

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Focal Palmoplantar Keratoderma, Aliases & Descriptions:

Name: Focal Palmoplantar Keratoderma 23 62
Hyperkeratosis of the Palms and Soles and Esophageal Papillomas 62
Palmoplantar Keratoderma, Nonepidermolytic, Focal 62
 
Focal Non-Epidermolytic Palmoplantar Keratoderma 23
Fneppk 23
Fppk 23


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin diseases


Related Diseases for Focal Palmoplantar Keratoderma

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Graphical network of the top 20 diseases related to Focal Palmoplantar Keratoderma:



Diseases related to focal palmoplantar keratoderma

Symptoms for Focal Palmoplantar Keratoderma

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Drugs & Therapeutics for Focal Palmoplantar Keratoderma

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Drug clinical trials:

Search ClinicalTrials for Focal Palmoplantar Keratoderma

Search NIH Clinical Center for Focal Palmoplantar Keratoderma

Genetic Tests for Focal Palmoplantar Keratoderma

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Anatomical Context for Focal Palmoplantar Keratoderma

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MalaCards organs/tissues related to Focal Palmoplantar Keratoderma:

33
Skin

Animal Models for Focal Palmoplantar Keratoderma or affiliated genes

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MGI Mouse Phenotypes related to Focal Palmoplantar Keratoderma:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.3KRT17, KRT6B, KRT6A, KRT16
2MP:00053827.9KRT16, KRT6A, KRT6B, KRT17, GJB2
3MP:00107687.9KRT16, KRT6A, KRT6B, KRT17, GJB2
4MP:00107717.8GJB2, KRT17, KRT6B, KRT6A, KRT16

Publications for Focal Palmoplantar Keratoderma

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Articles related to Focal Palmoplantar Keratoderma:

(show all 13)
idTitleAuthorsYear
1
A Gain-of-Function Mutation in TRPV3 Causes Focal Palmoplantar Keratoderma in a Chinese Family. (25285920)
2014
2
Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family. (24357266)
2013
3
A novel frameshift mutation in keratin 16 underlies pachyonychia congenita with focal palmoplantar keratoderma. (21668426)
2011
4
Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation. (21801157)
2011
5
Keratin K6c mutations cause focal palmoplantar keratoderma. (19609311)
2010
6
Keratin k6c mutations in focal palmoplantar keratoderma]. (20470930)
2010
7
Mutations in a keratin 6 isomer (K6c) cause a type of focal palmoplantar keratoderma. (20081885)
2010
8
Focal palmoplantar keratoderma with epidermolytic degeneration. (18554216)
2009
9
A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. (18787097)
2008
10
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. (17993581)
2008
11
Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene. (16484817)
2006
12
Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma. (10839714)
2000
13
Clinically specific type of focal palmoplantar keratoderma with sensorineural deafness: an entity. (2958375)
1987

Variations for Focal Palmoplantar Keratoderma

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Expression for genes affiliated with Focal Palmoplantar Keratoderma

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Search GEO for disease gene expression data for Focal Palmoplantar Keratoderma.

Pathways for genes affiliated with Focal Palmoplantar Keratoderma

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Pathways related to Focal Palmoplantar Keratoderma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.7KRT6C, KRT6A, KRT6B, KRT17
28.6KRT6C, KRT16, KRT6A, KRT17

Compounds for genes affiliated with Focal Palmoplantar Keratoderma

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Sources:
45Novoseek, 26HMDB, 13DrugBank
See all sources

Compounds related to Focal Palmoplantar Keratoderma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1asparagine459.2GJB2, KRT17
2sodium dodecylsulfate459.1KRT16, KRT17
3sucrose45 26 1311.0GJB2, DSG1
4retinoid459.0KRT16, KRT17, GJB2
5proline458.9KRT16, KRT6A, GJB2
6paraffin458.9GJB2, KRT17, KRT16
7retinoic acid45 269.1KRT16, KRT17, GJB2, DSG1

GO Terms for genes affiliated with Focal Palmoplantar Keratoderma

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Cellular components related to Focal Palmoplantar Keratoderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1keratin filamentGO:00450959.1KRT6B, KRT6A, KRT6C
2lateral plasma membraneGO:00163288.7GJB2, DSG1
3intermediate filamentGO:00058828.7KRT6C, KRT16, KRT6A, KRT17
4extracellular vesicular exosomeGO:00700628.6KRT16, KRT6A, KRT6B, KRT17

Biological processes related to Focal Palmoplantar Keratoderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1epidermis developmentGO:00085449.4KRT16, KRT17
2ectoderm developmentGO:00073989.3KRT6A, KRT6B

Molecular functions related to Focal Palmoplantar Keratoderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052008.6KRT16, KRT6A, KRT6B, KRT17

Products for genes affiliated with Focal Palmoplantar Keratoderma

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  • Antibodies
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  • Kits and Assays

Sources for Focal Palmoplantar Keratoderma

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet