FPPK
MCID: FCL029
MIFTS: 28

Focal Palmoplantar Keratoderma (FPPK) malady

Skin diseases category

Summaries for Focal Palmoplantar Keratoderma

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21Genetics Home Reference, 32MalaCards
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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 pachyonychia congenita and nonepidermolytic palmoplantar keratoderma. 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 isotretinoin and asparagine 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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21Genetics Home Reference, 60UMLS
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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 60
palmoplantar keratoderma, nonepidermolytic, focal 60
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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Diseases related to Focal Palmoplantar Keratoderma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 33)
idRelated DiseaseScoreTop Affiliating Genes
1pachyonychia congenita30.6KRT16, KRT6A
2nonepidermolytic palmoplantar keratoderma30.6KRT1, KRT16, GJB2, DSG1
3palmoplantar keratoderma, epidermolytic30.0KRT17, KRT1, KRT16
4keratoderma palmoplantar deafness10.2
5palmoplantar keratoderma, nonepidermolytic, focal10.2
6keratosis palmoplantaris striata i, ad10.2
7keratitis10.0GJB2
8cholesteatoma10.0KRT16
9keratoacanthoma10.0KRT17
10epidermolytic acanthoma10.0KRT1
11sarcoma10.0DSG1
12breast cancer10.0GJB2
13epidermolytic hyperkeratosis10.0KRT16, KRT1
14ectodermal dysplasia10.0KRT17, GJB2
15diffuse palmoplantar keratoderma, bothnian type10.0KRT16, KRT17
16dermatitis10.0KRT16, DSG1
17steatocystoma multiplex10.0KRT16, KRT17
18lichen planus10.0KRT1, KRT16
19esophageal cancer10.0GJB2, DSG1
20epidermolysis bullosa simplex10.0KRT16, KRT1, KRT17
21pachyonychia congenita type 210.0KRT6B, KRT17
22bowen syndrome10.0KRT17, KRT1, KRT16
23median rhomboid glossitis10.0KRT6A, KRT6B
24basal cell carcinoma10.0KRT17, KRT16
25hereditary mucosal leukokeratosis10.0KRT6A, KRT6B
26psoriasis10.0KRT16, KRT1, KRT17
27adenocarcinoma10.0KRT17, KRT1, GJB2
28keratoderma10.0DSG1, GJB2, KRT16, KRT1, KRT17
29palmoplantar keratosis10.0DSG1, GJB2, KRT16, KRT1, KRT17
30monilethrix10.0KRT16, KRT6A, KRT6B, KRT17
31squamous cell carcinoma10.0KRT17, KRT1, KRT16, GJB2, DSG1
32keratosis10.0KRT6B, GJB2, KRT16, KRT1, KRT6A
33skin disease10.0KRT17, KRT6A, KRT1, KRT16, GJB2, DSG1

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



Diseases related to focal palmoplantar keratoderma

Clinical Features for Focal Palmoplantar Keratoderma

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Drugs & Therapeutics for Focal Palmoplantar Keratoderma

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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32MalaCards
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MalaCards organs/tissues related to Focal Palmoplantar Keratoderma:

32
Skin

Animal Models for Focal Palmoplantar Keratoderma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Focal Palmoplantar Keratoderma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.1KRT17, KRT6B, KRT6A, KRT16
2MP:00053827.6GJB2, KRT16, KRT6A, KRT6B, KRT17
3MP:00107717.2KRT17, KRT6B, KRT6A, KRT1, KRT16, GJB2
4MP:00107686.9GJB2, KRT16, KRT1, KRT6A, KRT6B, KRT17

Publications for Focal Palmoplantar Keratoderma

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Genetic Variations for Focal Palmoplantar Keratoderma

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Expression for genes affiliated with Focal Palmoplantar Keratoderma

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1BioGPS, 15Gene 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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4Cell Signaling Technology, 12EMD Millipore
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Pathways related to Focal Palmoplantar Keratoderma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.2KRT17, KRT6B, KRT6A, KRT6C
28.1KRT17, KRT6A, KRT1, KRT16, KRT6C

Compounds for genes affiliated with Focal Palmoplantar Keratoderma

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44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Focal Palmoplantar Keratoderma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1isotretinoin44 1110.6KRT1, KRT16
2asparagine448.9GJB2, KRT1, KRT17
3retinoid448.8KRT17, KRT1, KRT16, GJB2
4paraffin448.8GJB2, KRT16, KRT1, KRT17
5sodium dodecylsulfate448.8KRT17, KRT1, KRT16
6proline448.6KRT6A, KRT1, KRT16, GJB2
7retinoic acid44 249.3DSG1, GJB2, KRT16, KRT1, KRT17

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
1lateral plasma membraneGO:0163289.6GJB2, DSG1
2intermediate filamentGO:0058828.3KRT6C, KRT16, KRT6A, KRT17
3keratin filamentGO:0450958.1KRT6B, KRT6A, KRT1, KRT6C

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

idNameGO IDScoreTop Affiliating Genes
1cytoskeleton organizationGO:0070109.8KRT16, KRT6C
2epidermis developmentGO:0085449.3KRT17, KRT16
3ectoderm developmentGO:0073988.9KRT6B, KRT6A

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:0052008.1KRT17, KRT6B, KRT6A, KRT16

Products for genes affiliated with Focal Palmoplantar Keratoderma

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  • Antibodies
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Sources for Focal Palmoplantar Keratoderma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet