FPPK
MCID: FCL029
MIFTS: 31

Focal Palmoplantar Keratoderma (FPPK) malady

Skin diseases category
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Summaries for Focal Palmoplantar Keratoderma

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21Genetics Home Reference, 33MalaCards
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Genetics Home Reference:21 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: 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. Related mouse phenotypes are digestive/alimentary and craniofacial.

Aliases & Classifications for Focal Palmoplantar Keratoderma

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62UMLS, 21Genetics Home Reference
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Classifications:

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


Aliases & Descriptions:

focal palmoplantar keratoderma 21
hyperkeratosis of the palms and soles and esophageal papillomas 62
palmoplantar keratoderma, nonepidermolytic, focal 62
focal non-epidermolytic palmoplantar keratoderma 21
fneppk 21
fppk 21


Related Diseases for Focal Palmoplantar Keratoderma

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17GeneCards, 18GeneDecks
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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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Focal Palmoplantar Keratoderma

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Anatomical Context for Focal Palmoplantar Keratoderma

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Animal Models for Focal Palmoplantar Keratoderma or affiliated genes

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37MGI
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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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52PubMed
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Articles related to Focal Palmoplantar Keratoderma:

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

Variations for Focal Palmoplantar Keratoderma

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Focal Palmoplantar Keratoderma:

1
id Gene Name Type Significance SNP ID Assembly Location
1KRT6CNM_173086.4(KRT6C): c.516_518delCAA (p.Asn172del)deletionPathogenic/card/focal_palmoplantar_keratodermaGRCh37Chr 12, 52867004: 52867006
2KRT16NM_005557.3(KRT16): c.379C> T (p.Arg127Cys)single nucleotide variantPathogenicrs59856285GRCh37Chr 17, 39768562: 39768562
3KRT16NM_005557.3(KRT16): c.374A> G (p.Asn125Ser)single nucleotide variantPathogenicrs60723330GRCh37Chr 17, 39768567: 39768567
4KRT6CNM_173086.4(KRT6C): c.1384_1410del27 (p.Ile462_Glu470del)deletionPathogenicrs267607475GRCh37Chr 12, 52863468: 52863494

Expression for genes affiliated with Focal Palmoplantar Keratoderma

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Focal Palmoplantar Keratoderma

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

Pathways for genes affiliated with Focal Palmoplantar Keratoderma

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50PathCards, 5Cell Signaling Technology, 60Thomson Reuters
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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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45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Focal Palmoplantar Keratoderma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1asparagine459.2GJB2, KRT17
2sodium dodecylsulfate459.1KRT16, KRT17
3sucrose45 24 1111.0GJB2, DSG1
4retinoid459.0KRT16, KRT17, GJB2
5proline458.9KRT16, KRT6A, GJB2
6paraffin458.9GJB2, KRT17, KRT16
7retinoic acid45 249.1KRT16, KRT17, GJB2, DSG1

GO Terms for genes affiliated with Focal Palmoplantar Keratoderma

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16Gene Ontology
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Cellular components related to Focal Palmoplantar Keratoderma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1keratin filamentGO:0450959.1KRT6B, KRT6A, KRT6C
2lateral plasma membraneGO:0163288.7GJB2, DSG1
3intermediate filamentGO:0058828.7KRT6C, KRT16, KRT6A, KRT17
4extracellular vesicular exosomeGO:0700628.6KRT16, KRT6A, KRT6B, KRT17

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

idNameGO IDScoreTop Affiliating Genes
1epidermis developmentGO:0085449.4KRT16, KRT17
2ectoderm developmentGO:0073989.3KRT6A, KRT6B

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:0052008.6KRT16, KRT6A, KRT6B, KRT17

Products for genes affiliated with Focal Palmoplantar Keratoderma

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Sources for Focal Palmoplantar Keratoderma

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet