FPPK
MCID: FCL029
MIFTS: 32

Focal Palmoplantar Keratoderma (FPPK) malady

Skin diseases category

Summaries for Focal Palmoplantar Keratoderma

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Genetics Home Reference:22 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 pachyonychia congenita and 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 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 22 61
Hyperkeratosis of the Palms and Soles and Esophageal Papillomas 61
Palmoplantar Keratoderma, Nonepidermolytic, Focal 61
 
Focal Non-Epidermolytic Palmoplantar Keratoderma 22
Fneppk 22
Fppk 22


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:

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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:

32
Skin

Animal Models for Focal Palmoplantar Keratoderma or affiliated genes

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MGI Mouse Phenotypes related to Focal Palmoplantar Keratoderma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.3KRT16, KRT6A, KRT6B, KRT17
2MP:00053827.9GJB2, KRT16, KRT6A, KRT6B, KRT17
3MP:00107687.9GJB2, KRT17, KRT6B, KRT6A, KRT16
4MP:00107717.8KRT17, KRT6B, KRT6A, KRT16, GJB2

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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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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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:
44Novoseek, 25HMDB, 12DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1asparagine449.2KRT17, GJB2
2sodium dodecylsulfate449.1KRT16, KRT17
3sucrose44 25 1211.0GJB2, DSG1
4retinoid449.0GJB2, KRT17, KRT16
5proline448.9GJB2, KRT16, KRT6A
6paraffin448.9KRT16, GJB2, KRT17
7retinoic acid44 259.1KRT16, 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:0450959.1KRT6B, KRT6A, KRT6C
2lateral plasma membraneGO:0163288.7DSG1, GJB2
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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  • Antibodies
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Sources for Focal Palmoplantar Keratoderma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet