FPPK
MCID: FCL029
MIFTS: 31

Focal Palmoplantar Keratoderma (FPPK) malady

Skin diseases category

Summaries for Focal Palmoplantar Keratoderma

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34MalaCards
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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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63UMLS, 22Genetics Home Reference
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Classifications:

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


Aliases & Descriptions:

focal palmoplantar keratoderma 22
hyperkeratosis of the palms and soles and esophageal papillomas 63
palmoplantar keratoderma, nonepidermolytic, focal 63
focal non-epidermolytic palmoplantar keratoderma 22
fneppk 22
fppk 22


Related Diseases for Focal Palmoplantar Keratoderma

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18GeneCards, 19GeneDecks
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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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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38MGI
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MGI Mouse Phenotypes related to Focal Palmoplantar Keratoderma:

38
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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53PubMed
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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, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Focal Palmoplantar Keratoderma

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Pathways for genes affiliated with Focal Palmoplantar Keratoderma

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51PathCards, 5Cell Signaling Technology, 61Thomson 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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46Novoseek, 25HMDB, 12DrugBank
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Compounds related to Focal Palmoplantar Keratoderma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1asparagine469.2GJB2, KRT17
2sodium dodecylsulfate469.1KRT16, KRT17
3sucrose46 25 1211.0GJB2, DSG1
4retinoid469.0KRT16, KRT17, GJB2
5proline468.9KRT16, KRT6A, GJB2
6paraffin468.9GJB2, KRT17, KRT16
7retinoic acid46 259.1KRT16, KRT17, GJB2, DSG1

GO Terms for genes affiliated with Focal Palmoplantar Keratoderma

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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet