FPPK
MCID: FCL029
MIFTS: 30

Focal Palmoplantar Keratoderma (FPPK) malady

Skin category

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 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, 61UMLS
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Classifications:

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


Aliases & Descriptions:

focal palmoplantar keratoderma 21
hyperkeratosis of the palms and soles and esophageal papillomas 61
palmoplantar keratoderma, nonepidermolytic, focal 61
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 in the Focal Palmoplantar Keratoderma family:

focal palmoplantar keratoderma with joint keratoses

Diseases related to Focal Palmoplantar Keratoderma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 33)
idRelated DiseaseScoreTop Affiliating Genes
1keratoderma31.1DSG1, GJB2, KRT16, KRT1, KRT17
2pachyonychia congenita30.7KRT16, KRT6A
3nonepidermolytic palmoplantar keratoderma30.6KRT1, KRT16, GJB2, DSG1
4palmoplantar keratoderma, epidermolytic30.3KRT17, KRT1, KRT16
5keratoderma palmoplantar deafness10.5
6focal palmoplantar keratoderma with joint keratoses10.4
7palmoplantar keratoderma, nonepidermolytic, focal10.2
8keratitis10.0GJB2
9cholesteatoma10.0KRT16
10keratoacanthoma10.0KRT17
11epidermolytic acanthoma10.0KRT1
12sarcoma10.0DSG1
13breast cancer10.0GJB2
14epidermolytic hyperkeratosis10.0KRT16, KRT1
15ectodermal dysplasia10.0KRT17, GJB2
16diffuse palmoplantar keratoderma, bothnian type10.0KRT16, KRT17
17dermatitis10.0KRT16, DSG1
18steatocystoma multiplex10.0KRT16, KRT17
19lichen planus10.0KRT1, KRT16
20esophageal cancer10.0GJB2, DSG1
21epidermolysis bullosa simplex10.0KRT16, KRT1, KRT17
22pachyonychia congenita type 210.0KRT6B, KRT17
23bowen syndrome10.0KRT17, KRT1, KRT16
24median rhomboid glossitis10.0KRT6A, KRT6B
25basal cell carcinoma10.0KRT17, KRT16
26hereditary mucosal leukokeratosis10.0KRT6A, KRT6B
27psoriasis10.0KRT16, KRT1, KRT17
28adenocarcinoma10.0KRT17, KRT1, GJB2
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

Drugs & Therapeutics for Focal Palmoplantar Keratoderma

Sources:
5CenterWatch, 42NIH 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

Anatomical Context for Focal Palmoplantar Keratoderma

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33MalaCards
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MalaCards organs/tissues related to Focal Palmoplantar Keratoderma:

33
Skin

Animal Models for Focal Palmoplantar Keratoderma or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Focal Palmoplantar Keratoderma:

37
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

Sources:
51PubMed
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Articles related to Focal Palmoplantar Keratoderma:

(show all 15)
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
Hereditary, focal, transgressive palmoplantar keratoderma with associated clinical findings: a new entity? (11952551)
2002
12
Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma. (10839714)
2000
13
Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC). (8776604)
1996
14
Novel mutations in keratin 16 gene underly focal nonepidermolytic palmoplantar keratoderma (NEPPK) in two families. (8595410)
1995
15
Clinically specific type of focal palmoplantar keratoderma with sensorineural deafness: an entity. (2958375)
1987

Genetic Variations for Focal Palmoplantar Keratoderma

Expression for genes affiliated with Focal Palmoplantar Keratoderma

Sources:
1BioGPS, 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

Sources:
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

Sources:
45Novoseek, 11DrugBank, 24HMDB
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Compounds related to Focal Palmoplantar Keratoderma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1isotretinoin45 1110.6KRT1, KRT16
2asparagine458.9GJB2, KRT1, KRT17
3retinoid458.8KRT17, KRT1, KRT16, GJB2
4paraffin458.8GJB2, KRT16, KRT1, KRT17
5sodium dodecylsulfate458.8KRT17, KRT1, KRT16
6proline458.6KRT6A, KRT1, KRT16, GJB2
7retinoic acid45 249.3DSG1, GJB2, KRT16, KRT1, KRT17

GO Terms for genes affiliated with Focal Palmoplantar Keratoderma

Sources:
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:0058828.3KRT17, KRT6C, KRT16, KRT6A
3keratin filamentGO:0450958.1KRT6C, KRT1, KRT6A, KRT6B

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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Sources for Focal Palmoplantar Keratoderma

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet